記述言語：英語  

DOI： 10.3171/2024.6.JNS24327

PubMed

記述言語：英語   掲載種別：研究論文（学術雑誌）   出版者・発行元：Scientific Reports  

Glioblastomas (GBMs) are the most aggressive types of central nervous system tumors. Although certain genomic alterations have been identified as prognostic biomarkers of GBMs, the histomorphological features that predict their prognosis remain elusive. In this study, following an integrative diagnosis of 227 GBMs based on the 2021 World Health Organization classification system, the cases were histologically fractionated by cellular variations and abundance to evaluate the relationship between cellular heterogeneity and prognosis in combination with O-6-methylguanine-DNA methyltransferase gene promoter methylation (mMGMTp) status. GBMs comprised four major cell types: astrocytic, pleomorphic, gemistocytic, and rhabdoid cells. t-distributed stochastic neighbor embedding analysis using the histological abundance of heterogeneous cell types identified two distinct groups with significantly different prognoses. In individual cell component analysis, the abundance of gemistocytes showed a significantly favorable prognosis but confounding to mMGMTp status. Conversely, the abundance of epithelioid cells was correlated with the unfavorable prognosis. Linear model analysis showed the favorable prognostic utility of quantifying gemistocytic and epithelioid cells, independent of mMGMTp. The evaluation of GBM cell histomorphological heterogeneity is more effective for prognosis prediction in combination with mMGMTp analysis, indicating that histomorphological analysis is a practical and useful prognostication tool in an integrative diagnosis of GBMs.

DOI： 10.1038/s41598-024-76826-8

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記述言語：英語   出版者・発行元：John Wiley & Sons Australia, Ltd  

記述言語：英語   掲載種別：研究論文（学術雑誌）   出版者・発行元：Pathology, research and practice  

Previously, we constructed a DNA-based next-generation sequencing (NGS) panel for an integrated diagnosis of gliomas according to the 2021 World Health Organization classification system. The aim of the current study was to evaluate the feasibility of a modified panel to include fusion gene detection via RNA-based analysis. Using this bimodal DNA/RNA panel, we analyzed 210 cases of gliomas and others to identify fusion genes in addition to gene alterations, including TERT promoter (TERTp) mutation and 1p/19q co-deletion, in formalin-fixed paraffin-embedded tissues. Of the 210 patients, fusion genes were detected in tumors of 35 patients. Eighteen of 112 glioblastomas (GBs) harbored fusion genes, including EGFR and FGFR3 fusions. In IDH-mutant astrocytoma, 6 of 30 cases showed fusion genes such as MET and NTRK2 fusions. Eleven molecular GBs and 20 not-elsewhere-classified cases harbored no gene fusions. Other 11 tumors including ependymoma, pilocytic astrocytoma, diffuse hemispheric glioma, infant-type hemispheric glioma, and solitary fibrous tumors exhibited diagnostic fusion genes. Overall, our results suggest that the all-in-one bimodal DNA/RNA panel is reliable for detecting diagnostic gene alterations in accordance with the latest WHO classification. The integrative pathological and molecular strategy could be valuable in confirmation of diagnosis and selection of treatment options for brain tumors.

DOI： 10.1016/j.prp.2024.155598

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記述言語：英語   出版者・発行元：Stem cells translational medicine  

Cerebral organoids (COs) in cell replacement therapy offer a viable approach to reconstructing neural circuits for individuals suffering from stroke or traumatic brain injuries. Successful transplantation relies on effective engraftment and neurite extension from the grafts. Earlier research has validated the effectiveness of delaying the transplantation procedure by 1 week. Here, we hypothesized that brain tissues 1 week following a traumatic brain injury possess a more favorable environment for cell transplantation when compared to immediately after injury. We performed a transcriptomic comparison to differentiate gene expression between these 2 temporal states. In controlled in vitro conditions, recombinant human progranulin (rhPGRN) bolstered the survival rate of dissociated neurons sourced from human induced pluripotent stem cell-derived COs (hiPSC-COs) under conditions of enhanced oxidative stress. This increase in viability was attributable to a reduction in apoptosis via Akt phosphorylation. In addition, rhPGRN pretreatment before in vivo transplantation experiments augmented the engraftment efficiency of hiPSC-COs considerably and facilitated neurite elongation along the host brain's corticospinal tracts. Subsequent histological assessments at 3 months post-transplantation revealed an elevated presence of graft-derived subcerebral projection neurons-crucial elements for reconstituting neural circuits-in the rhPGRN-treated group. These outcomes highlight the potential of PGRN as a neurotrophic factor suitable for incorporation into hiPSC-CO-based cell therapies.

DOI： 10.1093/stcltm/szae066

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記述言語：日本語   出版者・発行元：一般社団法人 日本消化器外科学会  

<p>症例は75歳の男性で，2020年進行胃癌に対して腹腔鏡下胃全摘術を施行した．病理診断で口側断端にリンパ管侵襲を認め非治癒切除と判断した．免疫染色検査でHER2［3+］であり，術後化学療法としてトラスツズマブ＋カペシタビン＋シスプラチン療法8コースとカペシタビン単剤療法を16コース施行した．術後約2年で左下肢の脱力感および転倒のため近医搬送となった．CTで転移性脳腫瘍を指摘され当院へ転院となった．その他の転移はなく，脳神経外科で開頭腫瘍摘出術を施行した．術後病理より胃癌の転移性腫瘍と判断した．トラスツズマブ投与後の頭蓋内単独再発例であったため，頭蓋内も含めた全身の治療効果を期待してニボルマブ単独投与を行い，術後6か月現在無再発経過中である．今回，我々はHER2陽性進行胃癌の切除後に抗HER2療法を行い，その後に単独脳転移を呈した1例を経験したため報告する．</p>

DOI： 10.5833/jjgs.2023.0051

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記述言語：英語   出版者・発行元：Pediatric Neurosurgery  

Introduction: Open-lip-type schizencephaly is characterized by trans-cerebral clefts filled with cerebrospinal fluid (CSF) between the subarachnoid space at the hemisphere surface and the lateral ventricles. Disorders related to CSF retention, including hydrocephalus and arachnoid cysts, have reportedly been associated with open-lip schizencephaly and have induced intracranial hypertension in some cases. However, detailed neuroimaging and surgical treatment findings have rarely been described. Case Presentation: We report 2 cases of open-lip schizencephaly with an expanding CSF-filled cavity overlying the ipsilateral cerebral hemisphere that manifested as signs of intracranial hypertension. Detailed three-dimensional heavily T2-weighted imaging revealed thin borders between the CSF-filled cavity and the subarachnoid space, but no separating structures between the cavity and the lateral ventricle, suggesting that the cavity was directly connected to the lateral ventricle through the schizencephalic cleft but not to the subarachnoid space. Neuroendoscopic observation in case 1 confirmed this finding. Endoscopic fenestration of the cavity to the prepontine cistern was ineffective in case 1. Shunting between the lateral ventricle (case 1) or CSF-filled cavity (case 2) and the peritoneal cavity slightly decreased the size of the CSF-filled cavity. Discussion: We speculate that the thin borders along the margin of the CSF-filled cavity are membranes that previously covered the schizencephalic cleft and are now pushed peripherally. In addition, we believe that the cavity is a ventricular diverticulum protruding through the cleft and that shunting operation is effective against such expanding cavity. Detailed magnetic resonance imaging can be useful for evaluating patients with schizencephaly associated with CSF retention disorders.

DOI： 10.1159/000536188

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記述言語：英語   出版者・発行元：Journal of Neurosurgery: Case Lessons  

GROUND The endoscopic endonasal approach to paramedian skull base lesions has garnered increasing attention in recent reports. However, ll a challenging approach. While the primary objective of the approach is the maximal removal of tumors through a minimally invasive procedure, sions of the approach rarely include information about the maximum preservation of nasal structures. This study aimed to retrospectively review nical outcomes of patients who had undergone an endoscopic endonasal approach to paramedian lesions, describe the technical and anatomical es related to this approach at the authors’ institution, and discuss the maximal preservation of nasal structures. RVATIONS The authors conducted a descriptive retrospective study of 17 surgical cases of paramedian endoscopic endonasal approaches med jointly by otolaryngologists and neurosurgeons from August 2018 to August 2022 at a tertiary hospital. ONS The approach to the paramedian region of the skull base was examined. Creating an appropriate corridor to maximize the surgical field is tial to allow a safe and accurate procedure. From an otolaryngologist’s perspective, the endoscopic modified medial maxillectomy is an essential dure that maximizes the surgical corridor and maximally preserves nasal morphology.

DOI： 10.3171/CASE24218

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記述言語：その他   掲載種別：研究論文（学術雑誌）   出版者・発行元：Neuro-Oncology Advances  

Abstract

Background

Homozygous deletion of the tumor suppression genes cyclin-dependent kinase inhibitor 2A/B (CDKN2A/B) is a strong adverse prognostic factor in IDH-mutant gliomas, particularly astrocytoma. However, the impact of hemizygous deletion of CDKN2A/B is unknown. Furthermore, the influence of CDKN2A/B status in IDH-mutant and 1p/19q-codeleted oligodendroglioma remains controversial. We examined the impact of CDKN2A/B status classification, including hemizygous deletions, on the prognosis of IDH-mutant gliomas.

Methods

We enrolled 101 adults with IDH-mutant glioma between December 2002 and November 2021. CDKN2A/B deletion was evaluated with multiplex ligation-dependent probe amplification (MLPA). Immunohistochemical analysis of p16/MTAP and promoter methylation analysis with methylation-specific MLPA was performed for cases with CDKN2A/B deletion. Kaplan−Meier plots and Cox proportion hazards model analyses were performed to evaluate the impact on overall (OS) and progression-free survival.

Results

Of 101 cases, 12 and 4 were classified as hemizygous and homozygous deletion, respectively. Immunohistochemistry revealed p16-negative and MTAP retention in cases with hemizygous deletion, whereas homozygous deletions had p16-negative and MTAP loss. In astrocytoma, OS was shorter in the order of homozygous deletion, hemizygous deletion, and copy-neutral groups (median OS: 38.5, 59.5, and 93.1 months, respectively). Multivariate analysis revealed hazard ratios of 9.30 (p=0.0191) and 2.44 (p=0.0943) for homozygous and hemizygous deletions, respectively.

Conclusions

CDKN2A/B hemizygous deletions exerted a negative impact on OS in astrocytoma. Immunohistochemistry of p16/MTAP can be utilized to validate hemizygous or homozygous deletions in combination with conventional molecular diagnosis.

DOI： 10.1093/noajnl/vdae069

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記述言語：その他   掲載種別：研究論文（学術雑誌）   出版者・発行元：iScience  

Lysosomes, the hub of metabolic signaling, are associated with various diseases and participate in autophagy by supplying nutrients to cells under nutrient starvation. However, their function and regulation under glucose starvation remain unclear and are studied herein. Under glucose starvation, lysosomal protein expression decreased, leading to the accumulation of damaged lysosomes. Subsequently, cell death occurred via ferroptosis and iron accumulation due to DMT1 degradation. GPX4, a key factor in ferroptosis inhibition located on the outer membrane of lysosomes, accumulated in lysosomes, especially under glucose starvation, to protect cells from ferroptosis. ALDOA, GAPDH, NAMPT, and PGK1 are also located on the outer membrane of lysosomes and participate in lysosomal function. These enzymes did not function effectively under glucose starvation, leading to lysosomal dysfunction and ferroptosis. These findings may facilitate the treatment of lysosomal-related diseases.

DOI： 10.1016/j.isci.2024.109735

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記述言語：日本語   出版者・発行元：日本脳腫瘍病理学会  

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記述言語：日本語   出版者・発行元：日本脳腫瘍病理学会  

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記述言語：日本語   出版者・発行元：日本脳腫瘍病理学会  

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記述言語：日本語   出版者・発行元：日本脳腫瘍病理学会  

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記述言語：日本語   出版者・発行元：日本脳腫瘍病理学会  

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記述言語：英語   出版者・発行元：Clinical Anatomy  

Endoscopic endonasal skull base surgery is increasingly prevalent, with its scope expanding from pathogens in the midline region to those in the paramedian region. Maximizing anterior sphenoidectomy is important for the median approach, and lateralizing the pterygopalatine fossa is crucial for the paramedian approach. Maximizing the surgical corridor in the nasal cavity and minimizing damage to neurovascular structures are vital for establishing a surgical field with minimal bleeding, ensuring safe, precise, and gentle procedures. However, the relationship between the maxillofacial and skull base bones in endoscopic endonasal skull base surgery is difficult to understand because these bones are intricately articulated, making it challenging to visualize each bone's outline. Understanding important bones and their related neurovascular structures is essential for all skull base surgeons to maximize the surgical corridor and minimize iatrogenic injury to neurovascular structures. This study aimed to elucidate the role of the palatine bone from a microsurgical anatomical perspective. Three dry skulls were used to demonstrate the structure of the palatine bone and its relationship with surrounding bones. A formalin-perfused cadaveric head was dissected to show the related neurovascular structures. The arteries and veins of the cadaveric heads were injected with red- and blue-colored silicon. Dissection was performed using a surgical microscope and endoscope. In addition, the utilization of the palatine bone as a landmark to identify neurovascular structures, which aids in creating a wider surgical field with less bleeding, was shown in two representative cases. The palatine bone consists of unique complex structures, including the sphenoidal process, ethmoidal crest, pterygopalatine canal, and sphenopalatine notch, which are closely related to the sphenopalatine artery, maxillary nerve, and its branches. The ethmoidal crest of the palatine bone is a well-known structure that is useful for identifying the sphenopalatine foramen, controlling the sphenopalatine artery and nerve, and safely opening the pterygopalatine fossa. The sphenoidal process of the palatine bone is a valuable landmark for identifying the palatovaginal artery, which is a landmark used to safely and efficiently expose the vidian canal. The sphenoidal process is easily cracked with an osteotome and removed to expose the palatovaginal artery, which runs along the pharyngeal groove, just medial to the vidian canal. By opening the pterygopalatine canal (also known as the greater palatine canal), further lateralization of the periosteum-covered pterygopalatine fossa contents can be achieved. Overall, the sphenoidal process and ethmoidal crest can be used as important landmarks to maximize the surgical corridor and minimize unnecessary injury to neurovascular structures.

DOI： 10.1002/ca.24170

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記述言語：英語   掲載種別：研究論文（学術雑誌）  

記述言語：日本語   出版者・発行元：(一社)日本小児神経外科学会  

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記述言語：英語   出版者・発行元：日本脳腫瘍病理学会  

記述言語：英語   掲載種別：研究論文（学術雑誌）   出版者・発行元：Journal of Neurosurgery: Pediatrics  

OBJECTIVE Intellectual function declines in about 30% of children with moyamoya disease (MMD). Memory function underpins higher order brain function, but the relationship between intellectual function and memory in pediatric MMD patients has not been well studied. This study aimed to investigate correlations between scores on the Wechsler Intelligence Scale for Children (WISC) and the Benton Visual Retention Test (BVRT), a visual memory test that can be administered to children, in children with MMD. Relationships between intellectual function or memory and regional cerebral blood flow (rCBF) have also not been well clarified in pediatric MMD patients. The authors also investigated associations between WISC or BVRT scores and rCBF in various brain regions. METHODS WISC and BVRT scores and rCBF were assessed in 17 children with ischemic-onset MMD before revascularization. Single-photon emission CT with 123I-iodoamphetamine was used to measure rCBF. Relationships between WISC and BVRT scores were evaluated using Spearman's correlation coefficient and multivariate linear regression analysis. Cutoff values were identified for BVRT scores. Sensitivity and specificity were calculated to predict full-scale intelligence quotient (FSIQ) > 85 or ≤ 85. Associations between rCBF and WISC or BVRT scores were evaluated using linear regression analysis. RESULTS BVRT scores were significantly correlated with FSIQ and scores on the Working Memory Index (WMI), Processing Speed Index, and Verbal Comprehension Index (VCI)/Verbal Intelligence Quotient (VIQ) of WISC. Multivariate linear regression revealed that number correct score and number of errors score of BVRT were associated with FSIQ. As cutoff values, a number correct score of 5 and a number of errors score of 8 offered the most reliable predictors of FSIQ > 85 and ≤ 85, respectively. FSIQ correlated positively with rCBF in the right and left hemispheres, right and left ganglia, right and left thalamus, right and left cerebellum, right middle cerebral artery (MCA) territory, pons, and vermis. WMI score was positively associated with rCBF in the right hemisphere, right anterior cerebral artery territory, right MCA territory, right basal ganglia, right and left thalamus, right and left cerebellum, pons, and vermis. CONCLUSIONS BVRT score correlated well with WISC index scores, suggesting that BVRT may be helpful in screening for intellectual impairments in children with MMD. In the MCA territory, basal ganglia, thalamus, cerebellum, pons, and vermis, rCBF associated well with WISC index scores, suggesting that reduced rCBF in relevant brain regions may influence intellectual function.

DOI： 10.3171/2023.11.PEDS23317

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記述言語：英語   掲載種別：研究論文（学術雑誌）   出版者・発行元：Scientific Reports  

Moyamoya disease (MMD) is characterized by progressive arterial occlusion, causing chronic hemodynamic impairment, which can reduce brain volume. A novel quantitative technique, synthetic magnetic resonance imaging (SyMRI), can evaluate brain volume. This study aimed to investigate whether brain volume measured with SyMRI correlated with cerebral blood flow (CBF) and brain function in adult MMD. In this retrospective study, 18 adult patients with MMD were included. CBF was measured using iodine-123-N-isopropyl-p-iodoamphetamine single photon emission computed tomography. Cerebrovascular reactivity (CVR) to acetazolamide challenge was also evaluated. Brain function was measured using the Wechsler Adult Intelligence Scales (WAIS)-III/IV and the WAIS-R tests. Gray matter (GM), white matter, and myelin-correlated volumes were evaluated in six areas. Resting CBF was positively correlated with GM fractions in the right anterior cerebral arterial and right middle cerebral arterial (MCA) territories. CVR was positively correlated with GM fraction in the right posterior cerebral arterial (PCA) territory. Full-Scale Intelligence Quotient and Verbal Comprehension Index scores were marginally positively correlated with GM fractions in the left PCA territory. Processing Speed Index score was marginally positively correlated with GM fraction in the right MCA territory. The SyMRI-measured territorial GM fraction correlated with CBF and brain function in patients with MMD.

DOI： 10.1038/s41598-024-56210-2

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記述言語：英語   掲載種別：研究論文（学術雑誌）  

記述言語：英語   掲載種別：研究論文（学術雑誌）   出版者・発行元：Neuropathology  

Since the World Health Organization (WHO) 2016 revision, the number of molecular markers required for diffuse gliomas has increased, placing a burden on clinical practice. We have established an in-house, molecular diagnostic platform using Senshin-Iryo, a feature of Japan's unique healthcare system, and partially modified the analysis method in accordance with the WHO 2021 revision. Herein, we review over a total 5 years of achievements using this platform. Analyses of IDH, BRAF, and H3 point mutations, loss of heterozygosity (LOH) on 1p/19q and chromosomes 10 and 17, and MGMT methylation were combined into a set that was submitted to Senshin-Iryo as "Drug resistance gene testing for anticancer chemotherapy" and was approved in August 2018. Subsequently, in October 2021, Sanger sequencing for the TERT promoter mutation was added to the set, and LOH analysis was replaced with multiplex ligation-dependent probe amplification (MLPA) to analyze 1p/19q codeletion and newly required genetic markers, such as EGFR, PTEN, and CDKN2A from WHO 2021. Among the over 200 cases included, 54 were analyzed after the WHO 2021 revision. The laboratory has maintained a diagnostic platform where molecular diagnoses are confirmed within 2 weeks. Initial expenditures exceeded the income from patient copayments; however, it has gradually been reduced to running costs alone and is approaching profitability. After the WHO 2021 revision, diagnoses were confirmed using molecular markers obtained from Senshin-Iryo in 38 of 54 cases (70.1%). Among the remaining 16 patients, only four (7.4%) were diagnosed with diffuse glioma, not elsewhere classified, which was excluded in 12 cases where glioblastoma was confirmed by histopathological diagnosis. Our Senshin-Iryo trial functioned as a salvage system to overcome the transition period between continued revisions of WHO classification that has caused a clinical dilemma in the Japanese healthcare system.

DOI： 10.1111/neup.12970

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記述言語：英語   掲載種別：研究論文（学術雑誌）   出版者・発行元：Neuroradiology  

Purpose: This study aimed to compare assessments by radiologists, artificial intelligence (AI), and quantitative measurement using synthetic MRI (SyMRI) for differential diagnosis between astrocytoma, IDH-mutant and oligodendroglioma, and IDH-mutant and 1p/19q-codeleted and to identify the superior method. Methods: Thirty-three cases (men, 14; women, 19) comprising 19 astrocytomas and 14 oligodendrogliomas were evaluated. Four radiologists independently evaluated the presence of the T2-FLAIR mismatch sign. A 3D convolutional neural network (CNN) model was trained using 50 patients outside the test group (28 astrocytomas and 22 oligodendrogliomas) and transferred to evaluate the T2-FLAIR mismatch lesions in the test group. If the CNN labeled more than 50% of the T2-prolonged lesion area, the result was considered positive. The T1/T2-relaxation times and proton density (PD) derived from SyMRI were measured in both gliomas. Each quantitative parameter (T1, T2, and PD) was compared between gliomas using the Mann–Whitney U-test. Receiver-operating characteristic analysis was used to evaluate the diagnostic performance. Results: The mean sensitivity, specificity, and area under the curve (AUC) of radiologists vs. AI were 76.3% vs. 94.7%; 100% vs. 92.9%; and 0.880 vs. 0.938, respectively. The two types of diffuse gliomas could be differentiated using a cutoff value of 2290/128 ms for a combined 90th percentile of T1 and 10th percentile of T2 relaxation times with 94.4/100% sensitivity/specificity with an AUC of 0.981. Conclusion: Compared to the radiologists’ assessment using the T2-FLAIR mismatch sign, the AI and the SyMRI assessments increased both sensitivity and objectivity, resulting in improved diagnostic performance in differentiating gliomas.

DOI： 10.1007/s00234-024-03288-0

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記述言語：英語   掲載種別：研究論文（学術雑誌）   出版者・発行元：Brain Tumor Pathology  

A prompt and reliable molecular diagnosis for brain tumors has become crucial in precision medicine. While Comprehensive Genomic Profiling (CGP) has become feasible, there remains room for enhancement in brain tumor diagnosis due to the partial lack of essential genes and limitations in broad copy number analysis. In addition, the long turnaround time of commercially available CGPs poses an additional obstacle to the timely implementation of results in clinics. To address these challenges, we developed a CGP encompassing 113 genes, genome-wide copy number changes, and MGMT promoter methylation. Our CGP incorporates not only diagnostic genes but also supplementary genes valuable for research. Our CGP enables us to simultaneous identification of mutations, gene fusions, focal and broad copy number alterations, and MGMT promoter methylation status, with results delivered within a minimum of 4 days. Validation of our CGP, through comparisons with whole-genome sequencing, RNA sequencing, and pyrosequencing, has certified its accuracy and reliability. We applied our CGP for 23 consecutive cases of intracranial mass lesions, which demonstrated its efficacy in aiding diagnosis and prognostication. Our CGP offers a comprehensive and rapid molecular profiling for gliomas, which could potentially apply to clinical practices and research primarily in the field of brain tumors.

DOI： 10.1007/s10014-023-00476-3

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記述言語：英語   掲載種別：研究論文（学術雑誌）   出版者・発行元：Cancers  

Glioma is one of the most common primary central nervous system (CNS) tumors, and its molecular diagnosis is crucial. However, surgical resection or biopsy is risky when the tumor is located deep in the brain or brainstem. In such cases, a minimally invasive approach to liquid biopsy is beneficial. Cell-free DNA (cfDNA), which directly reflects tumor-specific genetic changes, has attracted attention as a target for liquid biopsy, and blood-based cfDNA monitoring has been demonstrated for other extra-cranial cancers. However, it is still challenging to fully detect CNS tumors derived from cfDNA in the blood, including gliomas, because of the unique structure of the blood-brain barrier. Alternatively, cerebrospinal fluid (CSF) is an ideal source of cfDNA and is expected to contribute significantly to the liquid biopsy of gliomas. Several successful studies have been conducted to detect tumor-specific genetic alterations in cfDNA from CSF using digital PCR and/or next-generation sequencing. This review summarizes the current status of CSF-based cfDNA-targeted liquid biopsy for gliomas. It highlights how the approaches differ from liquid biopsies of other extra-cranial cancers and discusses the current issues and prospects.

DOI： 10.3390/cancers16051009

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記述言語：日本語   出版者・発行元：(一社)日本病理学会  

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記述言語：日本語   出版者・発行元：(公社)日本医学放射線学会  

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記述言語：日本語   出版者・発行元：(公社)日本医学放射線学会  

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記述言語：英語   掲載種別：研究論文（学術雑誌）   出版者・発行元：Neuroradiology  

Purpose: The cortical high-flow sign with the non-enhancing area was reportedly found to be more frequent with oligodendroglioma, IDH-mutant and 1p/19q codeleted (ODG IDHm-codel) than with IDH-wildtype or astrocytoma, IDH-mutant on arterial spin labeling (ASL) in diffuse gliomas. This study aimed to compare the identification rate of the cortical high-flow sign on ASL in patients with ODG IDHm-codel to that on dynamic susceptibility contrast-enhanced perfusion-weighted imaging (DSC-PWI). Methods: Participants consisted of 32 adult ODG IDHm-codel patients with pathologically confirmed. Subtraction images were generated from paired control and label images on ASL. For DSC, dynamic T2*-weighted perfusion weighted images were obtained after pre-bolus of gadolinium-based contrast agent. Regional cerebral blood flow/volume maps were generated based on the concentration–time curve and arterial input function. Tumor-affecting cortices without contrast enhancement on conventional MR imaging were targeted. The identification rate of the cortical high-flow sign was compared between ASL and DSC using the Pearson’s Chi-Square test. Results: Frequency of the cortical high-flow sign was significantly higher on ASL (18/32, 56.3%; p < 0.001) than on DSC (5/32, 15.6%). All cases with the positive cortical high-flow sign on DSC were identified on ASL. Conclusion: ASL effectively identifies the cortical high-flow sign in ODG IDHm-codel, surpassing DSC in identification rates.

DOI： 10.1007/s00234-023-03267-x

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記述言語：英語  

DOI： 10.7759/cureus.51677

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記述言語：日本語  

記述言語：日本語   出版者・発行元：(一社)日本内分泌学会  

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記述言語：英語  

DOI： 10.1093/noajnl/vdae176

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記述言語：英語   出版者・発行元：(一社)日本てんかん学会  

症例は27歳女性で、3歳時に自動車事故で右大脳半球に広範な外傷が生じ、保存的治療を受けたが、左片麻痺が残った。6歳時に全身にけいれん発作が出現し、外傷後てんかんと診断され、抗てんかん薬(ASM)投与が開始された。その後、カルバマゼピンとレベチラセタムで発作は良好にコントロールされており、25歳で当院へ転院となった。MRIでは、右中大脳動脈(MCA)の灌流領域と一致して前頭側頭・頭頂葉の脳実質に脳軟化が認められた。FLAIR画像ではこの領域に高信号が認められ、グリオーシスの存在が示唆された。27歳の月経時の夜21時頃に頭部不快感を訴え、その後焦点起始両側強直間代発作(FBTCS)が認められため当院へ救急搬送された。発作1時間後に撮像したtriple postlabeling delaysを用いた動脈スピンラベリングでは傍発作時過灌流は認められなかった。右内頸動脈とMCAが未発達であったため、右大脳半球への血液供給が十分でなく、発作時の代謝亢進を示すことができなかった可能性があった。ホスフェニトインを静注し、その翌日に退院した。患者と話し合った。その結果、ASMは変更しなかったが、過去6ヵ月間にFBTCSを経験していない。

記述言語：英語   出版者・発行元：JAPAN EPILEPSY SOCIETY  

<p>Arterial spin labeling (ASL) perfusion images allow noninvasive visualization of periictal hyperperfusion in epileptically activated areas occurring secondary to seizures in structural focal epilepsy, and demonstrate a close anatomical relationship between epileptogenic lesions and the activated area. A 27-year-old female patient with epilepsy presented with focal to bilateral tonic-clonic seizures. She had an extensive traumatic lesion in the perfusion area of the right middle cerebral artery (MCA), which occurred at 3 years of age. ASL with triple postlabeling delays (PLDs) imaged 1 hour after the seizure failed to reveal periictal hyperperfusion around the lesion. It was possible that because of the underdevelopment of the right internal carotid artery and MCA, the blood supply to the right hemisphere was not adequate to demonstrate ictal hypermetabolism. ASL results should be interpreted comprehensively by combining the clinical manifestations, electroencephalographic findings, and magnetic resonance (MR) imaging findings of various modalities including MR angiography.</p>

DOI： 10.3805/eands.16.1

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記述言語：英語   出版者・発行元：(一社)日本てんかん学会  

記述言語：英語   出版者・発行元：JAPAN EPILEPSY SOCIETY  

<p><i>Background</i>: We investigated the usefulness and limitations of adding arterial spin labeling (ASL) perfusion imaging to 1.5-Tesla magnetic resonance imaging (MRI) to compensate for the weakness of routine electroen-cephalography (EEG) in the pathophysiological diagnosis of post-intracerebral hemorrhage (ICH) epilepsy (PICHE) at neuroemergency.</p><p><i>Patients & Methods</i>: Five patients who developed PICHE and were immediately admitted to our hospital between August 2023 and January 2024 were studied. Patients 1-3 developed PICHE within 2 years after ICH onset, whereas patients 4 and 5 developed PICHE after more than 12 years. We retrospectively analyzed the performance status and MRI and EEG findings of each patient during the periictal and interictal states.</p><p><i>Results</i>: MRI was performed within 1 h of arrival in all patients. On the other hand, EEG was performed within 1 h in patients 1 and 2, who were transported during weekday hours, but 1-2 days later in patients 3-5, who were transported outside the consultation hours. In patients 1-3, periictal ASL showed focal hyperperfusion related to the site of cortical involvement due to the ICH and corticotomy performed during surgery. EEG revealed paroxysmal discharges almost corresponding to the site of periictal ASL hyperperfusion. However, ASL demonstrated the pathophysiological mechanism of structural focal epilepsy more clearly. In patients 4 and 5, on the contrary, the periictal ASL showed no focal hyperperfusion. MR angiography (MRA) showed markedly poor visualization of the ipsilateral peripheral middle cerebral artery (MCA), and the ipsilateral hemisphere showed a marked decrease in blood flow on the interictal ASL.</p><p><i>Conclusion</i>: Capturing periictal ASL hyperperfusion can improve the diagnosis of PICHE. However, in cases of PICHE occurring long after ICH onset, degeneration and regression of the affected MCA may occur in addition to primary damage to the MCA that supplies periictal hyperperfusion, making the visualization of periictal hyperperfusion difficult. Therefore, evaluations in conjunction with other modalities such as MRA and EEG are necessary.</p>

DOI： 10.3805/eands.16.78

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記述言語：英語   出版者・発行元：Surgical Neurology International  

Background: Retained medullary cord (RMC) and filar lipomas are believed to originate from secondary neurulation failure; filar lipomas are reported to histopathologically contain a central canal-like ependyma-lined lumen with surrounding neuroglial tissue with ependyma-lined central canal (NGT w/E-LC) as a remnant of the medullary cord, which is a characteristic histopathology of RMC. With the addition of glial fibrillary acidic protein (GFAP) immunostaining, we reported the presence of GFAP-positive NGT without E-LCs (NGT w/o E-LCs) in RMC and filar lipomas, and we believe that both have the same embryopathological significance. Methods: We examined the frequency of GFAP-positive NGT, with or without E-LC, in 91 patients with filar lipoma. Results: Eight patients (8.8%) had NGT w/E-LC, 25 patients (27.5%) had NGT w/o E-LC, and 18 patients (19.8%) had tiny NGT w/o E-LC that could only be identified by GFAP immunostaining. Combining these subgroups, 56% of the patients (n = 51) with filar lipoma had GFAP immunopositive NGT. Conclusion: The fact that more than half of filar lipomas have NGT provides further evidence that filar lipoma and RMC can be considered consequences of a continuum of regression failure that occurs during late secondary neurulation.

DOI： 10.25259/SNI_458_2024

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記述言語：英語   出版者・発行元：(一社)日本てんかん学会  

記述言語：英語   出版者・発行元：JAPAN EPILEPSY SOCIETY  

<p><i>Background</i>: We investigated the usefulness of the addition of arterial spin labeling (ASL) perfusion imaging to 1.5-Tesla magnetic resonance imaging (MRI) during the periictal period for the pathophysiological diagnosis of focal to bilateral tonic-clonic seizures (FBTCS) in dementia patients presenting at neurological emergency, to compensate for the weaknesses of electroencephalography (EEG).</p><p><i>Patients & Methods</i>: We retrospectively examined the performance status and findings of EEG and MRI in eight dementia patients who were transported to our hospital immediately after first-onset generalized convulsive seizures.</p><p><i>Results</i>: Five of the eight patients were transported outside of consultation hours, while three were transported within consultation hours. MRI was performed 1 to 7 h (mean, 2.8 h) after arrival, while EEG 2 h to 2 days (mean, 15.1 h). In addition, MRI was performed first in seven patients, and EEG was done first in only one patient. ASL demonstrated focal hyperperfusion in all patients. In Patients 1 and 2, periictal hyperperfusion was observed around the organic lesions, indicating the pathophysiology of structural focal epilepsy and acute symptomatic seizure, respectively. In Patients 3–8, periictal hyperperfusion was noted in one cerebral hemisphere or the apex of bilateral frontotemporal lobes unrelated to the organic lesions, which led to a suspicion of dementia-related epilepsy. In contrast, paroxysmal discharges were observed on EEG in only three patients, and their locations were consistent with the hyperperfusion identified on ASL. Focal slow waves, the location of which matched the ASL findings, were observed in one patient. However, a pathophysiological diagnosis could not be made from the EEG findings alone in the other patients.</p><p><i>Conclusion</i>: At our hospital, ASL was almost always performed prior to EEG. Capturing periictal ASL hyperperfusion first may improve the ability to make a prompt pathophysiological diagnosis of FBTCS associated with dementia.</p>

DOI： 10.3805/eands.16.29

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記述言語：英語   出版者・発行元：一般社団法人 日本脳神経外科学会  

DOI： 10.2176/jns-nmc.2023-0125

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CiNii Research

記述言語：英語   出版者・発行元：(一社)日本脳神経外科学会  

症例は71歳女性。8年間にわたり右片側顔面痙攣(HFS)の病歴があり、当院に入院となった。当初、痙攣は右上眼輪筋に限れていたが、次第に右顔面全体にみられるようになった。カルバマゼピン投与は無効であり、ボツリヌス毒素注射の効果も一時的であった。術前のMRIで、第VII脳神経の神経根出口領域(root exit zone)周辺に問題となる動脈は認められなかった。CT血管造影で、前下小脳動脈-後下小脳動脈(AICA-PICA)の共通幹に異常が認められ、AICA-PICA共通幹異常の吻側分枝が第VII脳神経を圧迫していた。微小血管減圧術(MVD)を施行したところ、HFSは消失し、原因動脈の転位後に異常筋反応も消失した。MVDの3日後に軽度の一過性顔面神経麻痺がみられたが、ビタミンB12の投与によって消失した。1年間の追跡期間中、HFSの再発は認められなかった。

記述言語：日本語   出版者・発行元：(一社)日本脊髄外科学会  

症例は80歳女性で、急な頭痛と嘔気のため救急搬送された。頭部CTで後頭蓋にくも膜下出血を認め、3D-CTAでは頭蓋内に動脈瘤や動脈解離の所見を認めなかった。脊髄血管造影ではC7椎間孔から脊髄へ向かうradiculomedullary arteryを認め、前脊髄動脈から左側で動静脈シャントを形成し、同部位から逆行性に頭側へ向かうdrainerを認め、feeder上に動脈瘤が形成されていた。左C8椎間孔レベルのradicular arteryは同定できず、頸椎perimedullary動静脈瘻(AVF)もしくはradicular AVFと診断した。day29に直達術で前方アプローチにてシャント離断を行い、術中所見からradicular AVFと診断した。動脈瘤を凝固し、その近位部を離断した時点でシャントが消失したため、シャントポイントには操作を加えずfeeder occlusionの形で硬膜内操作を終えた。術後37日目にリハビリテーション病院へ転院し、その後自宅退院した。術後1年目でシャントや動脈瘤再発を認めていない。

記述言語：英語   掲載種別：研究論文（学術雑誌）   出版者・発行元：World Neurosurgery  

Objective: Cognitive function can decline in adults with moyamoya disease (MMD). Memory, which is an essential but complex and multifaceted function, underpins executive and intellectual functions. However, the relationship between memory and executive or intellectual functions in adults with MMD has not been well studied. The relationship between memory and cerebral blood flow has also not been elucidated. This study investigated correlations between memory, executive function, and intellectual function, and associations between cerebral blood flow and memory in adults with MMD. Methods: Memory, executive function, and intellectual function were assessed using the Wechsler Memory Scale-Revised (WMS-R), Frontal Assessment Battery (FAB), and Wechsler Adult Intelligence Scale (WAIS) third or fourth edition, respectively, in 31 adults with MMD. Cerebral blood flow was measured with iodine 123I-iodoamphetamine single-photon emission computed tomography. Results: WMS-R scores correlated significantly with total FAB and WAIS scores before and after revascularization. Cerebral blood flow in the left posterior cerebral artery territory correlated positively with WMS-R and WAIS scores pre- and postoperatively. Postoperative cerebrovascular reserves of the right cerebellum, pons, and vermis were positively associated with visual memory, and postoperative cerebrovascular reserve of the pons was also associated with general memory. Conclusions: Memory function correlates with executive and intellectual functions in adults with MMD. The FAB, which requires about 10 min to administer, might be useful to screen for memory dysfunction. Memory might be vulnerable to hypoperfusion in the posterior cerebral artery territory among adults with MMD. Postoperative cerebrovascular reserve might help predict memory dysfunction in adults with MMD.

DOI： 10.1016/j.wneu.2023.09.092

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記述言語：英語   掲載種別：研究論文（学術雑誌）   出版者・発行元：Journal of Neurosurgery: Case Lessons  

BACKGROUND The authors report a case of symptomatic cavernous sinus (CS) dural arteriovenous fistula (dAVF) that was successfully treated using direct puncture of the superior ophthalmic vein (SOV) with craniotomy. CS dAVF is commonly treated using transvenous embolization (TVE), with the most common access route via the inferior petrosal sinus (IPS). However, this route is sometimes unavailable because of an occluded, hypoplastic, aplastic, or tortuous IPS. The SOV is an alternative, albeit tortuous and long, route to the CS; therefore, direct SOV puncture is occasionally performed. Direct SOV puncture is mostly percutaneous; however, in this case, it was difficult because of subcutaneous SOV narrowing. OBSERVATIONS As the patient experienced increased intraocular pressure, decreased vision, and eye movement disorders, CS embolization was performed via direct puncture with a craniotomy because of other access difficulties. LESSONS Several reports have described CS dAVF in patients receiving endovascular treatment via direct SOV puncture using a transorbital approach. However, to the best of the authors’ knowledge, this is the first reported case of a CS dAVF treated using TVE with craniotomy. This approach is useful when the SOV cannot be reached intravenously and its distance from the epidermis is long.

DOI： 10.3171/CASE23464

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記述言語：その他   掲載種別：研究論文（学術雑誌）   出版者・発行元：Oxford University Press (OUP)  

Abstract

Homozygous deletion of CDKN2A/B is a strong adverse prognostic factor in IDH-mutant astrocytomas. However, the impact of hemizygous deletions is unknown. We investigated the impact of CDKN2A/B hemizygous deletions on prognosis. We enrolled 52 adult patients with IDH-mutant astrocytomas between December 2002 and November 2021. CDKN2A/B deletion was evaluated with multiplex ligation-dependent probe amplification (MLPA) with threshold correction using a digital PCR-based IDH-mutant allele frequency. Immunohistochemical analysis of p16/MTAP was performed in CDKN2A/B deletion cases. Of the 52 cases, nine and three were classified as hemizygous and homozygous deletions, respectively. The OS was shorter in the order of homozygous deletion, hemizygous deletion, and copy-neutral groups (median OS:38.5, 59.5, and 93.1 months, respectively). Multivariate analysis revealed hazard ratios of 9.30 (p = 0.0191) and 2.44 (p = 0.0943) for homozygous and hemizygous deletions, respectively. Regarding PFS, in astrocytoma, the time to recurrence tended to be shorter in the order of homozygous deletion, hemizygous deletion, and copy-neutral, with a median PFS of 20.9, 38.9, and 53.0 months, respectively. There was no significant difference in PFS between the hemizygous deletion and copy-neutral groups (p = 0.4030). Malignant transformation was confirmed in 1 of 1 homozygous deletion, 2 of 3 hemizygous deletions, and 5 of 16 copy-neutrals. No significant difference was observed between the hemizygous deletion and copy-neutral groups; however, hemizygous deletion tended to require less time for malignant transformation than copy-neutral group (p = 0.1112). Immunohistochemistry revealed p16-negative and MTAP retention in cases with a hemizygous deletion, whereas homozygous deletions had p16-negative and MTAP loss. In conclusion, CDKN2A/B hemizygous deletions exerted a negative impact on OS in astrocytomas. Immunohistochemistry of p16/MTAP can be utilized to validate hemizygous or homozygous deletions in combination with conventional molecular diagnosis.

DOI： 10.1093/neuonc/noad179.0658

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記述言語：英語   出版者・発行元：(公社)日本整形外科学会  

症例は71歳男性で、テレビを視聴中、頭部を左外側に転じた際に突然のめまいを発症し、その後に構音障害と歩行障害を呈して当院に搬送された。脳梗塞と脊柱管狭窄症による頸椎症性脊髄症の既往を有しており、受診時の神経学的検査では意識清明で軽度運動失調を認め、MRIで椎骨脳底部に急性脳卒中がみられ、MR血管造影で左椎骨動脈(VA)の狭小化が検出された。左VAの動脈-動脈塞栓に起因する脳幹/小脳梗塞と診断を下し、左VAの血栓が浮遊して椎骨脳底領域で虚血性脳卒中を引き起こしたと考えられた。抗血小板剤に加えてヘパリン投与を開始し、その後のCT血管造影では左VA閉塞の再疎通が示され、その他にC5の後方亜脱臼によるC5/6レベルでの頸部脊柱管狭窄の特発性変化、C5/6の錐体鉤状骨棘が検出された。第16病日、以前のめまい発症時と同じ姿勢で突然の右上肢麻痺と複視をきたし、緊急血管造影で左VAのV4部に血栓形成を認め、rt-PA製剤の動注によってVAの再疎通を図った。さらに精査を進めた。その結果、中立位では両VAの開存が得られていたが、頭部を左側に回転すると左VA、右側に回転すると右VAに閉塞が生じることが判明した。薬物療法では血栓形成の改善は得られず、動的血管圧迫の最小化と頸椎安定化を目的にC3-7の後方固定術を施行した。術後のDSAでは頭部回転時に両VAの狭窄はみられず、その後3年、脳梗塞の発症は認めていない。

記述言語：英語   出版者・発行元：Neuroradiology  

The original article contains an error during online publication. There was an error in the previous version of Table 2. Specifically, the values of rrTBF for IDHm-noncodel and IDHm-codel were identical at 1.24 ± 1.23 [0.76–1.71]. The authors have provided a corrected version below. (Table presented.) Differences between IDHw, IDHm-noncodel and IDHm-codel in the ASL parameters IDHw (n = 21) IDHm-noncodel (n = 28) IDHm-codel (n = 22) P-value ASL Cortical high-flow sign 2/21(9.5%) 2/28(7.1%) 12/22(54.5%) <0.0001* rrTBF 1.31 ± 0.56 [1.05–1.56] 1.24 ± 1.23 [0.76–1.71] 1.31 ± 0.60 [1.05–1.58] 0.9473 *p < 0.05

DOI： 10.1007/s00234-023-03228-4

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記述言語：英語   掲載種別：研究論文（学術雑誌）   出版者・発行元：Journal of Neurosurgery: Case Lessons  

BACKGROUND We report a case of symptomatic, progressive stenosis of a persistent primitive hypoglossal artery (PPHA), which was successfully treated with percutaneous transluminal angioplasty (PTA) of the origin of the PPHA. The PPHA is a type of carotid-basilar anastomosis with an incidence of 0.02% to 0.10%. It originates from the internal carotid artery (ICA), passes through the hypoglossal canal, and merges with the basilar artery. In many cases, the ipsilateral vertebral artery is hypoplastic; therefore, PPHA stenosis causes cerebral infarction in the posterior circulation territory, as in this case. OBSERVATIONS The patient’s right PPHA had severe and progressive stenosis; therefore, he experienced cerebral infarction despite medical treatment. Therefore, PTA for the stenosis was performed, which ceased the recurrence of cerebral infarction and dizziness by improving blood flow in the posterior circulation. LESSONS Several reports have described ICA stenosis accompanied by PPHA or PPHA stenosis in patients receiving endovascular treatments. Almost all cases were nonprogressive, and the treatment procedure was stenting. However, in our case, the PPHA stenosis was progressive, and we performed PTA because the patient experienced resistance to antiplatelet drugs and had poor collateral flow.

DOI： 10.3171/CASE23427

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記述言語：日本語  

記述言語：英語   出版者・発行元：(一社)日本癌治療学会  

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記述言語：日本語   出版者・発行元：(一社)日本病理学会  

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記述言語：日本語   出版者・発行元：株式会社医学書院  

DOI： 10.11477/mf.1436204817

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記述言語：その他   掲載種別：研究論文（学術雑誌）   出版者・発行元：Springer Science and Business Media LLC  

Abstract

We have previously reported that 12p gain may predict the presence of malignant components and poor prognosis for CNS germ cell tumor (GCT). Recently, 3p25.3 gain was identified as an independent predictor of poor prognosis for testicular GCT. Eighty-one CNS GCTs were analyzed. Copy number was calculated using methylation arrays. Five cases (6.2%) showed 3p25.3 gain, but only among the 40 non-germinomatous GCTs (NGGCTs) (5/40, 12.5%; p = 0.03). Among NGGCTs, those with a yolk sac tumor component showed a significantly higher frequency of 3p25.3 gain (18.2%) than those without (1.5%; p = 0.048). NGGCTs with gain showed significantly shorter progression-free survival (PFS) than those without (p = 0.047). The 3p25.3 gain and 12p gain were independent from each other. The combination of 3p25.3 gain and/or 12p gain was more frequent among NGGCTs with malignant components (69%) than among those without (29%; p = 0.02). Germinomas containing a higher number of copy number alterations showed shorter PFS than those with fewer (p = 0.03). Taken together, a finding of 3p25.3 gain may be a copy number alteration specific to NGGCTs and in combination with 12p gain could serve as a marker of negative prognosis or treatment resistance. Germinoma with frequent chromosomal instability may constitute an unfavorable subgroup.

DOI： 10.1038/s41598-023-42842-3

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その他リンク： https://www.nature.com/articles/s41598-023-42842-3

記述言語：英語   掲載種別：研究論文（学術雑誌）   出版者・発行元：Neuro-Oncology Advances  

BACKGROUND: Glioblastoma (GBM) is a malignant brain tumor, with radiological and genetic heterogeneity. We examined the association between radiological characteristics and driver gene alterations. METHODS: We analyzed the driver genes of 124 patients with IDH wild-type GBM with contrast enhancement using magnetic resonance imaging. We used a next-generation sequencing panel to identify mutations in driver genes and matched them with radiological information. Contrast-enhancing lesion localization of GBMs was classified into 4 groups based on their relationship with the subventricular zone (SVZ) and cortex (Ctx). RESULTS: The cohort included 69 men (55.6&#37;) and 55 women (44.4&#37;) with a mean age of 66.4 ± 13.3 years. EGFR and PDGFRA alterations were detected in 28.2&#37; and 22.6&#37; of the patients, respectively. Contrast-enhancing lesion touching both the SVZ and Ctx was excluded because it was difficult to determine whether it originated from the SVZ or Ctx. Contrast-enhancing lesions touching the SVZ but not the Ctx had significantly worse overall survival than non-SVZ lesions (441 days vs. 897 days, P = .002). GBM touching only the Ctx had a better prognosis (901 days vs. 473 days, P < .001) than non-Ctx lesions and was associated with EGFR alteration (39.4&#37; vs. 13.2&#37;, P = .015). Multiple contrast lesions were predominant in PDGFRA alteration and RB1-wild type (P = .036 and P = .031, respectively). CONCLUSIONS: EGFR alteration was associated with cortical lesions. And PDGFRA alteration correlated with multiple lesions. Our results suggest that clarifying the association between driver genes and tumor localization may be useful in clinical practice, including prognosis prediction.

DOI： 10.1093/noajnl/vdad110

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記述言語：英語   掲載種別：研究論文（学術雑誌）   出版者・発行元：Scientific Reports  

Angiogenic factors associated with Moyamoya disease (MMD) are overexpressed in M2 polarized microglia in ischemic stroke, suggesting that microglia may be involved in the pathophysiology of MMD; however, existing approaches are not applicable to explore this hypothesis. Herein we applied blood induced microglial-like (iMG) cells. We recruited 25 adult patients with MMD and 24 healthy volunteers. Patients with MMD were subdivided into progressive (N = 7) or stable (N = 18) group whether novel symptoms or radiographic advancement of Suzuki stage within 1 year was observed or not. We produced 3 types of iMG cells; resting, M1-, and M2-induced cells from monocytes, then RNA sequencing followed by GO and KEGG pathway enrichment analysis and qPCR assay were performed. RNA sequencing of M2-induced iMG cells revealed that 600 genes were significantly upregulated (338) or downregulated (262) in patients with MMD. Inflammation and immune-related factors and angiogenesis-related factors were specifically associated with MMD in GO analysis. qPCR for MMP9, VEGFA, and TGFB1 expression validated these findings. This study is the first to demonstrate that M2 microglia may be involved in the angiogenic process of MMD. The iMG technique provides a promising approach to explore the bioactivity of microglia in cerebrovascular diseases.

DOI： 10.1038/s41598-023-41456-z

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記述言語：英語   掲載種別：研究論文（学術雑誌）   出版者・発行元：Neuroradiology  

This study aimed to investigate whether arterial spin labeling (ASL) features allow differentiation of oligodendroglioma, IDH-mutant and 1p/19q-codeleted (IDHm-codel) from diffuse glioma with IDH-wildtype (IDHw) or astrocytoma, IDH-mutant (IDHm-noncodel). Participants comprised 71 adult patients with pathologically confirmed diffuse glioma, classified as IDHw, IDHm-noncodel, or IDHm-codel. Subtraction images were generated from paired-control/label images on ASL and used to assess the presence of a cortical high-flow sign. The cortical high-flow sign was defined as increased ASL signal intensity within the tumor-affecting cerebral cortex compared with normal-appearing cortex. Regions without contrast enhancement on conventional MR imaging were targeted. The frequency of the cortical high-flow sign on ASL was compared among IDHw, IDHm-noncodel, and IDHm-codel. As a result, the frequency of the cortical high-flow sign was significantly higher for IDHm-codel than for IDHw or IDHm-noncodel. In conclusion, the cortical high-flow sign could represent a hallmark of oligodendroglioma, IDH-mutant, and 1p/19q-codeleted without intense contrast enhancement.

DOI： 10.1007/s00234-023-03186-x

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記述言語：英語   掲載種別：研究論文（学術雑誌）   出版者・発行元：Neuroradiology  

PURPOSE: Isocitrate dehydrogenase (IDH)-wildtype diffuse astrocytic glioma with telomerase reverse transcriptase (TERT) promoter mutation is defined as glioblastoma by the WHO 2021 criteria, revealing that TERT promotor mutation is highly associated with tumor aggressiveness. The aim of this study was to identify features from MR spectroscopy (MRS) and multi-exponential models of DWI distinguishing wild-type TERT (TERTw) from TERT promoter mutation (TERTm) in IDH-wildtype diffuse astrocytic glioma. METHODS: Participants comprised 25 adult patients with IDH-wildtype diffuse astrocytic glioma. Participants were classified into TERTw and TERTm groups. Point-resolved spectroscopy sequences were used for MRS data acquisition. DWI was performed with 13 different b-factors. Peak height ratios of NAA/Cr and Cho/Cr were calculated from MRS data. Mean apparent diffusion coefficient (ADC), perfusion fraction (f), diffusion coefficient (D), pseudo-diffusion coefficient (D*), distributed diffusion coefficient (DDC), and heterogeneity index (α) were obtained using multi-exponential models from DWI data. Each parameter was compared between TERTw and TERTm using the Mann-Whitney U test. Correlations between parameters derived from MRS and DWI were also evaluated. RESULTS: NAA/Cr and Cho/Cr were both higher for TERTw than for TERTm. The α of TERTw was smaller than that of TERTm, while the f of TERTw was higher than that of TERTm. NAA/Cr correlated negatively with α, but not with other DWI parameters. Cho/Cr did not show significant correlations with any DWI parameters. CONCLUSION: The combination of NAA/Cr and α may have merit in clinical situation to predict the TERT mutation status of IDH-wildtype diffuse astrocytic glioma without intense enhancement.

DOI： 10.1007/s00234-023-03177-y

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記述言語：日本語   出版者・発行元：(一社)日本小児神経外科学会  

症例は0生日女児.妊娠27週に前頭骨の変形と後頸部腫瘤を指摘された.32週の胎児Magnetic Resonance Imaging(MRI)で後頸部脳瘤を認め,38週に予定帝王切開で出生した.後頸部に長径4cmの腫瘤を認め,MRIで腫瘤内に頭蓋内から逸脱した組織を認めたことから後頭部脳瘤と診断した.1生日に脳瘤修復術,9生日に髄液漏修復術を施行した.さらに術後3ヵ月後に水頭症に対して脳室-腹腔シャント術を施行した.同胞の姉も脳瘤にて手術歴がある.同胞間脳瘤発症例は少なく,多彩な奇形を呈する本例はまれである.今回,同胞間発症と水頭症併発の2点に着目して考察を加える.(著者抄録)

記述言語：英語   出版者・発行元：(一社)日本脳神経外科学会  

膠芽腫患者を対象とした後ろ向き研究を実施し、FLAIR病変切除率を評価することで、supramaximal resection(SMR)の臨床効果について検討した。2006年12月～2018年8月に神経膠腫と診断された成人患者のうち、肉眼的全切除(GTR)が施行された成人33例(年齢中央値64歳、男性19例)を対象とした。評価項目は腫瘍切除率(手術前後のFLAIRおよびガドリニウム強調T1強調画像の腫瘍体積を3D画像体積分析装置により測定)、SMR率(0%から10%刻み)などとした。腫瘍を皮質灰白質との接触により、皮質群23例(SMR 8例、GTR 15例)、深在性群10例(SMR 4例、全切除6例)に分けて検討した。その結果、SMR閾値が30%以上の場合に全生存期間の改善が観察された。皮質群ではGTRと比較してSMRで全生存期間が延長する傾向が認められた(69.6ヵ月対22.1ヵ月)。一方、深在群ではGTRと比較してSMRで全生存期間が有意に短縮していた(10.2ヵ月対27.9ヵ月、p=0.0221)。以上から、FLAIR病変のsupramaximal resectionは神経膠腫患者の生存期間を延長可能であることが示された。

記述言語：英語   出版者・発行元：Pathology Research and Practice  

Amplification of the epidermal growth factor receptor gene (EGFR) and its variants are the most commonly detected pathogenic gene alterations in glioblastoma. Herein, we report a case of molecularly defined glioblastoma harboring an EGFR variant III (EGFRvIII) without EGFR amplification. The initial histological diagnosis was isocitrate dehydrogenase (IDH)-wildtype low-grade glioma, due to an absence of anaplasia, necrosis, and microvascular proliferation, and a low Ki-67 labeling index. DNA-based next-generation sequencing (NGS) panel analysis revealed a TERTp promoter mutation but no EGFR mutation or amplification, supporting the diagnosis of "molecular glioblastoma." However, RNA-based NGS panel analysis revealed mRNA expression of EGFRvIII. Therefore, the final integrative diagnosis was glioblastoma with non-amplified EGFRvIII. Our report suggests that non-amplified EGFRvIII might be an early molecular event in glioblastoma tumorigenesis. In addition to the usual DNA-based analysis, RNA-based analysis is required to identify exon-skipping EGFR variants without EGFR amplification.

DOI： 10.1016/j.prp.2023.154712

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記述言語：英語   掲載種別：研究論文（学術雑誌）   出版者・発行元：一般社団法人 日本脳神経外科学会  

We aimed to retrospectively determine the resection rate of fluid-attenuated inversion recovery (FLAIR) lesions to evaluate the clinical effects of supramaximal resection (SMR) on the survival of pa-tients with glioblastoma (GBM). Thirty-three adults with newly diagnosed GBM who underwent gross total tumor resection were enrolled. The tumors were classified into cortical and deep-seated groups according to their contact with the cortical gray matter. Pre-and postoperative FLAIR and gadolinium-enhanced T1-weighted imaging tumor volumes were measured using a three-dimensional imaging volume analyzer, and the resection rate was calculated. To evaluate the association between SMR rate and outcome, we subdivided patients whose tumors were totally resected into the SMR and non-SMR groups by moving the threshold value of SMR in 10&#37; increments from 0&#37; and compared their overall survival (OS) change. An improvement in OS was observed when the threshold value of SMR was 30&#37; or more. In the cortical group (n = 23), SMR (n = 8) tended to prolong OS compared with gross total resection (GTR) (n = 15), with the median OS of 69.6 and 22.1 months, respectively (p = 0.0945). Contrastingly, in the deep-seated group (n = 10), SMR (n = 4) significantly shortened OS compared with GTR (n = 6), with median OS of 10.2 and 27.9 months, respectively (p = 0.0221). SMR could help prolong OS in patients with cortical GBM when 30&#37; or more volume reduction is achieved in FLAIR lesions, although the impact of SMR for deep-seated GBM must be validated in larger co-horts.

DOI： 10.2176/jns-nmc.2022-0351

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記述言語：日本語   出版者・発行元：The Mt. Fuji Workshop on CVD事務局  

2013年1月～2020年12月に包括的脳卒中センター6施設における血栓回収術(MT)885例のうち、癌関連血栓症(CAT)に伴う脳主幹動脈閉塞症23例(女性74%:年齢中央値77歳)に対するMTの成績について後方視的検討を行った。非CAT群862例(女性49%:年齢中央値79歳)との比較では、女性の割合が有意に多く、発症前の抗凝固薬内服が高く、t-PA静注療法の施行例が少なく、院内発症率が有意に高かった。CAT群は90日後の機能予後および死亡率が不良であったが死因の多くが癌の増悪であり、再開通率や合併症率は非CAT群と有意差は認めなかった。

記述言語：英語   掲載種別：研究論文（学術雑誌）   出版者・発行元：Surgical Neurology International  

Background: We previously demonstrated the usefulness of periorbital electrodes in supplemental recording to detect epileptiform discharges in patients with mesial temporal lobe epilepsy (MTLE). However, eye movement may disturb periorbital electrode recording. To overcome this, we developed mandibular (MA) and chin (CH) electrodes and examined whether these electrodes could detect hippocampal epileptiform discharges. Methods: This study included a patient with MTLE, who underwent insertion of bilateral hippocampal depth electrodes and video-electroencephalographic (EEG) monitoring with simultaneous recordings of extra- and intracranial EEG as part of a presurgical evaluation. We examined 100 consecutive interictal epileptiform discharges (IEDs) recorded from the hippocampus and two ictal discharges. We compared these IEDs from intracranial electrodes with those from extracranial electrodes such as MA and CH electrodes in addition to F7/8 and A1/2 of international EEG 10-20 system, T1/2 of Silverman, and periorbital electrodes. We analyzed the number, rate of laterality concordance, and mean amplitude of IEDs detected in extracranial EEG monitoring and characteristics of IEDs on the MA and CH electrodes. Results: The MA and CH electrodes had nearly the same detection rate of hippocampal IEDs from other extracranial electrodes without contamination by eye movement. Three IEDs, not detected by A1/2 and T1/2, could be detected using the MA and CH electrodes. In two ictal events, the MA and CH electrodes detected the ictal discharges from the hippocampal onset as well as other extracranial electrodes. Conclusion: The MA and CH electrodes could detect hippocampal epileptiform discharges as well as A1/A2, T1/T2, and peri-orbital electrodes. These electrodes could serve as supplementary recording tools for detecting epileptiform discharges in MTLE.

DOI： 10.25259/SNI_1164_2022

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記述言語：英語  

We present a case of the T2-FLAIR mismatch sign in glioblastoma, isocitrate dehydrogenase (IDH)-wild type. The T2-FLAIR mismatch sign is known as a highly specific imaging finding of astrocytoma, IDH-mutant. Meanwhile, IDH-wildtype diffuse astrocytic gliomas with telomerase reverse transcriptase (TERT) promoter mutation in adults are defined as glioblastoma in the 2021 World Health Organization Classification of Tumors of the Central Nervous System, fifth edition (2021 WHO classification), which underscores the importance of molecular information in central nervous system tumors. This indicates even glioblastoma, IDH-wild type may be masquerading as lower-grade glioma in histology. The reasons for the discrepancy between tumors with less aggressive histology and poor prognosis caused by telomerase reverse transcriptase promoter mutation of IDH-wildtype diffuse glioma remain unclear. However, glioblastoma, IDH-wildtype should be considered as a potential differential diagnosis even in patients with the T2-FLAIR mismatch sign in diffuse gliomas.

DOI： 10.1177/20584601231184565

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記述言語：その他   掲載種別：研究論文（学術雑誌）   出版者・発行元：Scientific Reports  

Abstract

Glioblastoma, a malignant tumor, has no curative treatment. Recently, mitochondria have been considered a potential target for treating glioblastoma. Previously, we reported that agents initiating mitochondrial dysfunction were effective under glucose-starved conditions. Therefore, this study aimed to develop a mitochondria-targeted treatment to achieve normal glucose conditions. This study used U87MG (U87), U373, and patient-derived stem-like cells as well as chloramphenicol (CAP) and 2-deoxy-d-glucose (2-DG). We investigated whether CAP and 2-DG inhibited the growth of cells under normal and high glucose concentrations. In U87 cells, 2-DG and long-term CAP administration were more effective under normal glucose than high-glucose conditions. In addition, combined CAP and 2-DG treatment was significantly effective under normal glucose concentration in both normal oxygen and hypoxic conditions; this was validated in U373 and patient-derived stem-like cells. 2-DG and CAP acted by influencing iron dynamics; however, deferoxamine inhibited the efficacy of these agents. Thus, ferroptosis could be the underlying mechanism through which 2-DG and CAP act. In conclusion, combined treatment of CAP and 2-DG drastically inhibits cell growth of glioblastoma cell lines even under normal glucose conditions; therefore, this treatment could be effective for glioblastoma patients.

DOI： 10.1038/s41598-023-37483-5

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その他リンク： https://www.nature.com/articles/s41598-023-37483-5

記述言語：日本語   出版者・発行元：一般社団法人 日本内分泌学会  

DOI： 10.1507/endocrine.99.s.update_14

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記述言語：日本語  

記述言語：日本語  

記述言語：日本語  

記述言語：日本語  

記述言語：日本語  

記述言語：日本語  

記述言語：日本語  

記述言語：日本語   出版者・発行元：(一社)日本内分泌学会  

症例は68歳男性で、左眼瞼下垂、視力低下を主訴に、前医の頭部MRIにて下垂体部の腫瘍を指摘され、手術目的に当院紹介となった。下垂体腫瘍に対し外科的腫瘍摘出術を施行し、病理組織学的にトルコ鞍内脊索腫と診断された。術前後の内分泌学的所見を評価すると、術前に認めた下垂体前葉ホルモン基礎値の広範な低下は、術後にはPRLを除いて改善し、術後はホルモン補充療法を行わず経過観察する方針とした。また、眼瞼下垂と視力低下は術後改善し、術後7ヵ月の時点で再発は認めなかった。

記述言語：日本語   出版者・発行元：(一社)日本内分泌学会  

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記述言語：日本語   出版者・発行元：日本脳腫瘍病理学会  

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記述言語：日本語   出版者・発行元：日本脳腫瘍病理学会  

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記述言語：日本語   出版者・発行元：日本脳腫瘍病理学会  

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記述言語：日本語   出版者・発行元：日本脳腫瘍病理学会  

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記述言語：日本語   出版者・発行元：日本脳腫瘍病理学会  

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記述言語：日本語   出版者・発行元：日本脳腫瘍病理学会  

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記述言語：日本語   出版者・発行元：日本脳腫瘍病理学会  

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記述言語：日本語  

記述言語：英語   掲載種別：研究論文（学術雑誌）   出版者・発行元：Elsevier BV  

Cell replacement therapy is expected as a new and more radical treatment against brain damage. We previously reported that transplanted human cerebral organoids extend their axons along the corticospinal tract in rodent brains. The axons reached the spinal cord but were still sparse. Therefore, this study optimized the host brain environment by the adeno-associated virus (AAV)-mediated expression of axon guidance proteins in mouse brain. Among netrin-1, SEMA3, and L1CAM, only L1CAM significantly promoted the axonal extension of mouse embryonic brain tissue-derived grafts. L1CAM was also expressed by donor neurons, and this promotion was exerted in a haptotactic manner by their homophilic binding. Primary cortical neurons cocultured on L1CAM-expressing HEK-293 cells supported this mechanism. These results suggest that optimizing the host environment by the AAV-mediated expression of axon guidance molecules enhances the effect of cell replacement therapy.

DOI： 10.1016/j.stemcr.2023.02.012

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記述言語：英語   掲載種別：研究論文（学術雑誌）  

BACKGROUND: The goal was to determine whether the addition of temozolomide (TMZ) to the standard treatment of high-dose methotrexate (HD-MTX) and whole-brain radiotherapy (WBRT) for primary central nervous system lymphoma (PCNSL) improves survival. METHODS: An open-label, randomized, phase III trial was conducted in Japan, enrolling immunocompetent patients aged 20-70 years with histologically confirmed, newly diagnosed PCNSL. After administration of HD-MTX, patients were randomly assigned to receive WBRT (30 Gy) ± 10 Gy boost (arm A) or WBRT ± boost with concomitant and maintenance TMZ for two years (arm B). The primary endpoint was overall survival (OS). RESULTS: Between September 29, 2014 and October 15, 2018, 134 patients were enrolled, of whom 122 were randomly assigned and analyzed. At the planned interim analysis, two-year OS was 86.8% (95% confidence interval [CI]: 72.5-94.0%) in arm A and 71.4% (56.0-82.2%) in arm B. The hazard ratio was 2.18 (95% CI: 0.95 to 4.98), with the predicted probability of showing the superiority of arm B at the final analysis estimated to be 1.3%. The study was terminated early due to futility. O 6-methylguanine-DNA methyltransferase (MGMT) promoter methylation status was measured in 115 tumors, and it was neither prognostic nor predictive of TMZ response. CONCLUSIONS: This study failed to demonstrate the benefit of concomitant and maintenance TMZ in newly diagnosed PCNSL.

DOI： 10.1093/neuonc/noac246

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記述言語：英語   掲載種別：研究論文（学術雑誌）   出版者・発行元：BMJ Open  

OBJECTIVES: To examine the national, 6-year trends in in-hospital clinical outcomes of patients with subarachnoid haemorrhage (SAH) who underwent clipping or coiling and the prognostic influence of temporal trends in the Comprehensive Stroke Center (CSC) capabilities on patient outcomes in Japan. DESIGN: Retrospective study. SETTING: Six hundred and thirty-one primary care institutions in Japan. PARTICIPANTS: Forty-five thousand and eleven patients with SAH who were urgently hospitalised, identified using the J-ASPECT Diagnosis Procedure Combination database. PRIMARY AND SECONDARY OUTCOME MEASURES: Annual number of patients with SAH who remained untreated, or who received clipping or coiling, in-hospital mortality and poor functional outcomes (modified Rankin Scale: 3-6) at discharge. Each CSC was assessed using a validated scoring system (CSC score: 1-25 points). RESULTS: In the overall cohort, in-hospital mortality decreased (year for trend, OR (95&#37; CI): 0.97 (0.96 to 0.99)), while the proportion of poor functional outcomes remained unchanged (1.00 (0.98 to 1.02)). The proportion of patients who underwent clipping gradually decreased from 46.6&#37; to 38.5&#37;, while that of those who received coiling and those left untreated gradually increased from 16.9&#37; to 22.6&#37; and 35.4&#37; to 38&#37;, respectively. In-hospital mortality of coiled (0.94 (0.89 to 0.98)) and untreated (0.93 (0.90 to 0.96)) patients decreased, whereas that of clipped patients remained stable. CSC score improvement was associated with increased use of coiling (per 1-point increase, 1.14 (1.08 to 1.20)) but not with short-term patient outcomes regardless of treatment modality. CONCLUSIONS: The 6-year trends indicated lower in-hospital mortality for patients with SAH (attributable to better outcomes), increased use of coiling and multidisciplinary care for untreated patients. Further increasing CSC capabilities may improve overall outcomes, mainly by increasing the use of coiling. Additional studies are necessary to determine the effect of confounders such as aneurysm complexity on outcomes of clipped patients in the modern endovascular era.

DOI： 10.1136/bmjopen-2022-068642

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記述言語：英語   掲載種別：研究論文（学術雑誌）   出版者・発行元：Journal of Neuro-Oncology  

PURPOSE: Pineal parenchymal tumors of intermediate differentiation (PPTIDs), which were recognized in the 2007 World Health Organization (WHO) classification, are rare, accounting for less than 1&#37; of all central nervous system tumors. This rarity and novelty complicate the diagnosis and treatments of PPTID. We therefore aimed to evaluate the clinicopathological significance of this tumor. METHODS: At 11 institutions participating in the Kyushu Neuro-Oncology Study Group, data for patients diagnosed with PPTID were collected. Central pathology review and KBTBD4 mutation analysis were applied to attain the diagnostically accurate cohort. RESULTS: PPTID was officially diagnosed in 28 patients: 11 (39&#37;) with WHO grade 2 and 17 (61&#37;) with WHO grade 3 tumors. Median age was 49 years, and the male:female ratio was 1:2.1. Surgery was attempted in all 28 patients, and gross total resection (GTR) was achieved in 46&#37; (13/28). Adjuvant radiotherapy and chemotherapy were administered to, respectively, 82&#37; (23/28) and 46&#37; (13/28). The 5-year progression-free survival (PFS) and overall survival rates were 64.9&#37; and 70.4&#37; respectively. Female sex (p = 0.018) and GTR (p < 0.01) were found to be independent prognostic factors for PFS and female sex (p = 0.019) was that for OS. Initial and second recurrences were most often leptomeningeal (67&#37; and 100&#37; respectively). 80&#37; (20/25) of patients harbored a KBTBD4 mutation. CONCLUSIONS: Female sex and GTR were independent prognostic factors in our patients with PPTID. Leptomeningeal recurrence was observed to be particularly characteristic of this tumor. The rate of KBTBD4 mutation observed in our cohort was acceptable and this could prove the accuracy of our PPTID cohort.

DOI： 10.1007/s11060-023-04310-w

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記述言語：英語   掲載種別：研究論文（学術雑誌）   出版者・発行元：World Neurosurgery  

BACKGROUND: There is a large disparity between the quality of neurosurgical research in developed and developing nations, including the Association of Southeast Asian Nations (ASEAN). Bibliometric analysis is an appropriate method for evaluating the quality of research in a geographic region. We analyzed the neurosurgery reports published by the ASEAN countries to highlight regional productivity in neurosurgery research. METHODS: We performed a bibliometric analysis of neurosurgery reports from the ASEAN countries between 2011 and 2020. We described the publication number, study type, and field of study of the publication articles. In addition, we assessed the correlations between the neurosurgery research productivity of these countries and the neurosurgeon ratio, medical doctor ratio, per capita gross domestic product, and health expenditure per capita. RESULTS: We identified 1939 neurosurgeons in the ASEAN region; 570 articles were published by neurosurgeons in the region between 2011 and 2020. Singaporean neurosurgeons were the most productive, with 177 articles, accounting for 31&#37; of the total ASEAN neurosurgeon publications in the study period. However, there has been a rapid recent increase in the number of articles. Case reports and tumors were the dominant type and field of the articles, respectively. There was no significant correlation between the neurosurgical research productivity of the ASEAN countries and the neurosurgeon ratio, medical doctor ratio, per capita gross domestic product, and health expenditure per capita. CONCLUSIONS: By analyzing the neurosurgery publications from ASEAN countries over the previous decade, we highlight the status of neurosurgical research in these countries.

DOI： 10.1016/j.wneu.2023.01.059

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記述言語：日本語   出版者・発行元：(一社)日本小児神経外科学会  

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記述言語：日本語   出版者・発行元：耳鼻と臨床会  

<p>症例は 18 歳、男性。3 年前に意識消失を伴うてんかん発作を発症、その後薬物治療を行うもてんかん発作を繰り返す状態であった。画像検査で中頭蓋窩から蝶形骨洞側窩に陥入する側頭葉の髄膜脳瘤を指摘され、側頭葉てんかんの焦点と考えられたため髄膜脳瘤切除目的に当院入院となった。経鼻内視鏡下に蝶形骨側窩の髄膜脳瘤を切除し、その後、有茎中鼻甲介粘膜弁を用いて多層での頭蓋底再建を行った。術後、てんかん発作は消失、髄液漏や創部の合併症なく経過している。蝶形骨洞側窩のように蝶口蓋孔近傍で限局した箇所であれば鼻中隔粘膜弁でなくても中鼻甲介粘膜弁での代用が可能で、minimal transpterygoid approach を用い、さらに蝶口蓋動脈とその分枝である中鼻甲介動脈を温存することで頭蓋底再建時に中鼻甲介粘膜弁の利用が可能となった。</p>

DOI： 10.11334/jibi.69.2_116

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記述言語：その他   掲載種別：研究論文（学術雑誌）   出版者・発行元：Surgical Neurology International  

Background:

Our recent report showed that 1.5-T pulsed arterial spin labeling (ASL) magnetic resonance (MR) perfusion imaging (1.5-T Pulsed ASL [PASL]), which is widely available in the field of neuroemergency, is useful for detecting ictal hyperperfusion. However, the visualization of intravascular ASL signals, namely, arterial transit artifact (ATA), is more remarkable than that of 3-T pseudocontinuous ASL and is easily confused with focal hyperperfusion. To eliminate ATA and enhance the detectability of (peri) ictal hyperperfusion, we developed the subtraction of ictal-interictal 1.5-T PASL images co-registered to conventional MR images (SIACOM).

Methods:

We retrospectively analyzed the SIACOM findings in four patients who underwent ASL during both (peri) ictal and interictal states and examined the detectability for (peri) ictal hyperperfusion.

Results:

In all patients, the ATA of the major arteries was almost eliminated from the subtraction image of the ictal-interictal ASL. In patients 1 and 2 with focal epilepsy, SIACOM revealed a tight anatomical relationship between the epileptogenic lesion and the hyperperfusion area compared with the original ASL image. In patient 3 with situation-related seizures, SIACOM detected minute hyperperfusion at the site coinciding with the abnormal electroencephalogram area. SIACOM of patient 4 with generalized epilepsy diagnosed ATA of the right middle cerebral artery, which was initially thought to be focal hyperperfusion on the original ASL image.

Conclusion:

Although it is necessary to examine several patients, SIACOM can eliminate most of the depiction of ATA and clearly demonstrate the pathophysiology of each epileptic seizure.

DOI： 10.25259/sni_723_2022

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その他リンク： http://surgicalneurologyint.com/surgicalint-articles/detection-of-ictal-and-periictal-hyperperfusion-with-subtraction-of-ictal-interictal-1-5-tesla-pulsed-arterial-spin-labeling-images-co-registered-to-conventional-magnetic-resonance-images-siacom

記述言語：日本語   出版者・発行元：耳鼻と臨床会  

症例は18歳、男性。3年前に意識消失を伴うてんかん発作を発症、その後薬物治療を行うもてんかん発作を繰り返す状態であった。画像検査で中頭蓋窩から蝶形骨洞側窩に陥入する側頭葉の髄膜脳瘤を指摘され、側頭葉てんかんの焦点と考えられたため髄膜脳瘤切除目的に当院入院となった。経鼻内視鏡下に蝶形骨側窩の髄膜脳瘤を切除し、その後、有茎中鼻甲介粘膜弁を用いて多層での頭蓋底再建を行った。術後、てんかん発作は消失、髄液漏や創部の合併症なく経過している。蝶形骨洞側窩のように蝶口蓋孔近傍で限局した箇所であれば鼻中隔粘膜弁でなくても中鼻甲介粘膜弁での代用が可能で、minimal transpterygoid approachを用い、さらに蝶口蓋動脈とその分枝である中鼻甲介動脈を温存することで頭蓋底再建時に中鼻甲介粘膜弁の利用が可能となった。(著者抄録)

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記述言語：日本語   出版者・発行元：耳鼻と臨床会  

症例は18歳、男性。3年前に意識消失を伴うてんかん発作を発症、その後薬物治療を行うもてんかん発作を繰り返す状態であった。画像検査で中頭蓋窩から蝶形骨洞側窩に陥入する側頭葉の髄膜脳瘤を指摘され、側頭葉てんかんの焦点と考えられたため髄膜脳瘤切除目的に当院入院となった。経鼻内視鏡下に蝶形骨側窩の髄膜脳瘤を切除し、その後、有茎中鼻甲介粘膜弁を用いて多層での頭蓋底再建を行った。術後、てんかん発作は消失、髄液漏や創部の合併症なく経過している。蝶形骨洞側窩のように蝶口蓋孔近傍で限局した箇所であれば鼻中隔粘膜弁でなくても中鼻甲介粘膜弁での代用が可能で、minimal transpterygoid approachを用い、さらに蝶口蓋動脈とその分枝である中鼻甲介動脈を温存することで頭蓋底再建時に中鼻甲介粘膜弁の利用が可能となった。(著者抄録)

記述言語：日本語   出版者・発行元：(一社)日本内分泌学会  

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記述言語：日本語   出版者・発行元：(一社)日本内分泌学会  

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記述言語：英語   掲載種別：研究論文（学術雑誌）   出版者・発行元：Pituitary  

PURPOSE: Delayed postoperative hyponatremia (DPH) is a unique complication of transsphenoidal surgery (TSS) in pituitary tumors. Growth hormone (GH) enhances renal sodium reabsorption; however, the association between postoperative GH reduction and DPH in acromegaly is unclear. This study was performed to clarify the incidence of and the predictive factors for DPH in patients with acromegaly who underwent TSS. METHODS: Ninety-four patients with active acromegaly were examined retrospectively. During the postoperative course, patients with serum sodium levels ≤ 134 mEq/L were classified into the DPH group. We compared basic clinical characteristics, tumor characteristics, and preoperative and postoperative examination findings between the DPH and non-DPH groups. RESULTS: DPH occurred in 39 patients (41.5&#37;), and the lowest serum sodium levels were generally observed during postoperative days (PODs) 7-9. They needed a 3-day longer hospital stay than those without DPH. The DPH group had lower preoperative body weight and body mass index. In addition, a transient increase in body weight during PODs 5-7 occurred with a transient decrease in urinary volume in the DPH group. Preoperative and postoperative GH and insulin-like growth factor-1 levels did not differ between the two groups. CONCLUSION: The findings suggested that lower preoperative weight and a postoperative transient gain in body weight are associated with an increased risk of DPH in acromegaly patients undergoing transsphenoidal surgery.

DOI： 10.1007/s11102-022-01288-y

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記述言語：その他   掲載種別：研究論文（学術雑誌）   出版者・発行元：Surgical Neurology International  

Background:

A heterotopic dorsal root ganglion (DRG) is sometimes observed in the vicinity of dysplastic neural structures during surgery for open spinal dysraphism; however, it is rarely associated with closed spinal dysraphism. Distinguish from neoplasms by preoperative imaging study is difficult. Although the embryopathogenesis of a heterotopic DRG has been speculated to be migration disorder of neural crest cells from primary neural tube, its details remain unelucidated.

Case Description:

We report a pediatric case with an ectopic DRG in cauda equina associated with a fatty terminal filum and bifid sacrum. The DRG mimicked a schwannoma in the cauda equina on preoperative magnetic resonance imaging. Laminotomy at L3 revealed that the tumor was entangled in the nerve roots, and small parts of the tumor were resected for biopsy. Histopathologically, the tumor consisted of ganglion cells and peripheral nerve fibers. Ki-67 immunopositive cells were observed at the periphery of the ganglion cells. These findings indicate the tumor comprised DRG tissue.

Conclusion:

We report detailed neuroradiological, intraoperative and histological findings and discuss the embryopathogenesis of the ectopic DRG. One should be aware of the possibility of ectopic or heterotopic DRGs when cauda equina tumors are observed in pediatric patients with neurulation disorders.

DOI： 10.25259/sni_1089_2022

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その他リンク： http://surgicalneurologyint.com/surgicalint-articles/ectopic-dorsal-root-ganglion-in-cauda-equina-mimicking-schwannoma-in-a-child/

記述言語：日本語  

記述言語：その他   掲載種別：研究論文（学術雑誌）   出版者・発行元：Surgical Neurology International  

Background:

Development of dermoid or epidermoid cysts in myelomeningocele (MMC) sites is generally thought to occur in a delayed fashion due to implantation of dermal elements during initial repair surgery. Another theory is that dermal and dermoid elements may already be present within dysplastic neural structures at birth.

Methods:

We experienced histopathological presence of dermal elements in resected tissues at initial repair surgery in four out of 18 cases with MMC who required resection of parts or margins of the neural structures to perform cord untethering. Since one of these cases has already been reported, we describe the clinicopathological findings for the remaining three cases.

Results:

In Case1, cryptic dermoid elements were discovered in the terminal filum-like structure (FT-LS) caudal to the open neural placode (NP). The FT-LS had histopathological characteristics similar to the retained medullary cord. In Case 2, dermoid elements were discovered in the caudal margin of the dysplastic conus medullaris. In Case 3, a thin squamous epithelial layer overlapped the rostral margin of the NP where the NP was located near the skin. Case 1 developed an epidermoid cyst at 1 year and 2 months of age, which was totally resected.

Conclusion:

Prenatally existing cryptic dermoid elements in the caudal portion of neural structures and remnants of dermal elements overlapping the rostral margin of the NP are associated with delayed occurrence of dermoid/ epidermoid cysts. Postoperative histopathological investigation of the resected specimens is recommended. Once dermal elements are revealed, repeated imaging examination and additional surgery should be considered.

DOI： 10.25259/sni_989_2022

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その他リンク： http://surgicalneurologyint.com/surgicalint-articles/histopathological-presence-of-dermal-elements-in-resected-margins-of-neural-structures-obtained-from-initial-repair-surgery-for-myelomeningocele/

記述言語：その他   掲載種別：研究論文（学術雑誌）   出版者・発行元：Neuro-Oncology Advances  

Abstract

Background

Telomerase reverse transcriptase promoter (TERTp) mutations are a biological marker of glioblastoma; however, the prognostic significance of TERTp mutational status is controversial. We evaluated this impact by retrospectively analyzing the outcomes of patients with isocitrate dehydrogenase (IDH)- and TERTp-wild-type glioblastomas.

Methods

Using custom next-generation sequencing, we analyzed 208 glioblastoma samples harboring wild-type IDH.

Results

TERTp mutations were detected in 143 samples (68.8&#37;). The remaining 65 (31.2&#37;) were TERTp-wild-type. Among the TERTp-wild-type glioblastoma samples, we observed a significant difference in median progression-free survival (18.6 and 11.4 months, respectively) and overall survival (not reached and 15.7 months, respectively) in patients with and without phosphatase and tensin homolog (PTEN) loss and/or mutation. Patients with TERTp-wild-type glioblastomas with PTEN loss and/or mutation were younger and had higher Karnofsky Performance Status scores than those without PTEN loss and/or mutation. We divided the patients with TERTp-wild-type into 3 clusters using unsupervised hierarchical clustering: Good (PTEN and TP53 alterations; lack of CDKN2A/B homozygous deletion and platelet-derived growth factor receptor alpha (PDGFRA) alterations), intermediate (PTEN alterations, CDKN2A/B homozygous deletion, lack of PDGFRA, and TP53 alterations), and poor (PDGFRA and TP53 alterations, CDKN2A/B homozygous deletion, and lack of PTEN alterations) outcomes. Kaplan–Meier survival analysis indicated that these clusters significantly correlated with the overall survival of TERTp-wild-type glioblastoma patients.

Conclusions

Here, we report that PTEN loss and/or mutation is the most useful marker for predicting favorable outcomes in patients with IDH- and TERTp-wild-type glioblastomas. The combination of 4 genes, PTEN, TP53, CDKN2A/B, and PDGFRA, is important for the molecular classification and individual prognosis of patients with IDH- and TERTp-wild-type glioblastomas.

DOI： 10.1093/noajnl/vdad078

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その他リンク： https://academic.oup.com/noa/article-pdf/5/1/vdad078/51012903/vdad078.pdf

記述言語：日本語   出版者・発行元：(一社)日本定位・機能神経外科学会  

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記述言語：英語   出版者・発行元：(一社)日本てんかん学会  

症例は94歳女性。一人暮らしで、自立した日常生活活動はほとんどできていなかった。朝6時半頃に室内を徘徊しているところを発見され当院受診となった。到着時には意思疎通ができなかったが麻痺は観察されなかった。CTでは急性病変は発見されず、脳波検査では三相性の形態を示す全般性周期性放電が認められた。血液検査では肝機能と腎機能に異常はみられず、代謝性脳症と非痙攣性てんかん重積状態を鑑別するのは困難であった。脳波検査の約30分後にMRIを行ったところ、拡散強調画像では異常な高信号は示されなかったが、FLAIR画像では左側脳室下角の拡大と、両側深部白質の慢性虚血性変化が描出された。さらに動脈スピン標識(ASL)画像では、脳実質がびまん性に低灌流となっており、てんかん発作であれば同画像で高灌流が示されるはずであった。さらに同画像では、主要な動脈に、おそらく血流停滞によると思われるarterial transit artifactが著明に認められた。第2病日の血中アンモニア濃度は128mg/dL(基準値30～86mg/dL)と高く、上記のASL画像所見と併せ、便秘によって生じた高アンモニア血症性脳症と診断した。強力な下剤の投与を続けたところアンモニア濃度は正常化し、精神状態とASL画像所見も改善した。

記述言語：日本語   出版者・発行元：一般社団法人 日本小児神経外科学会  

<p>症例は0生日女児．妊娠27週に前頭骨の変形と後頚部腫瘤を指摘された．32週の胎児Magnetic Resonance Imaging（MRI）で後頚部脳瘤を認め，38週に予定帝王切開で出生した．後頚部に長径4 cmの腫瘤を認め，MRIで腫瘤内に頭蓋内から逸脱した組織を認めたことから後頭部脳瘤と診断した．1生日に脳瘤修復術，9生日に髄液漏修復術を施行した．さらに術後3か月後に水頭症に対して脳室-腹腔シャント術を施行した．同胞の姉も脳瘤にて手術歴がある．同胞間脳瘤発症例は少なく，多彩な奇形を呈する本例はまれである．今回，同胞間発症と水頭症併発の2点に着目して考察を加える．</p>

DOI： 10.34544/jspn.48.3_290

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その他リンク： https://search.jamas.or.jp/default/link?pub_year=2023&ichushi_jid=J00650&link_issn=&doc_id=20231204190007&doc_link_id=%2Fco2socie%2F2023%2F004803%2F007%2F0290-0294%26dl%3D0&url=https%3A%2F%2Fwww.medicalonline.jp%2Fjamas.php%3FGoodsID%3D%2Fco2socie%2F2023%2F004803%2F007%2F0290-0294%26dl%3D0&type=MedicalOnline&icon=https%3A%2F%2Fjk04.jamas.or.jp%2Ficon%2F00004_2.gif

記述言語：英語   出版者・発行元：(一社)日本てんかん学会  

症例1は43歳男性。3ヵ月前の食事中に全身性強直間代発作が突然出現していた。今回、飲酒後の夜10時頃に5分ほど続く2回目の全身性発作が出現し、当院を受診した。発作から約1時間後に行ったMRIでの動脈スピン標識(ASL)灌流画像では、左側の海馬から側頭葉にかけて信号強度がわずかに上昇していた。発作から約12時間後の脳波検査では突発性放電は観察されず、左側頭領域に焦点性徐波が稀に出現していた。2週後の脳波では突発性放電も焦点性徐波も観察されなかった。当初疑った通り側頭葉てんかんと診断してラコサミドを開始し、6ヵ月間の経過観察で発作は発生しなかった。症例2は63歳男性。1ヵ月前に僧帽弁置換術を受けていた。てんかんの既往と家族歴はなく、焦点意識減損発作(FIAS)が年に数回出現し、他院で脳波検査とMRIを受けたが異常は発見されていなかった。今回、約10分間続くFIASが出現したため当院へ搬送された。MRIのASL画像では両側の海馬、右側の側頭葉、両側の前頭葉基底部にわずかな信号増強を認めた。第3病日の早朝に得た脳波では右側頭領域に突発性活動が頻繁に観察された。以降に得られた画像所見も併せ、当初の疑い通り、右側頭葉てんかんと診断しラコサミドを開始した。6ヵ月間の経過観察中、FIASは発生しなかった。

記述言語：英語   出版者・発行元：(一社)日本てんかん学会  

症例は45歳男性。結節性硬化症複合体および重度の精神遅滞を有していた。乳児期に結節性硬化症複合体に伴う発達障害およびてんかん性脳症と診断され、別の精神科病院により抗てんかん薬が処方されていた。ここ数年、全般性強直間代発作を呈していなかったが、約1日間持続する全般性強直間代発作を発症し、当院に救急搬送された。発作から約4時間後に、動脈スピンラベル灌流画像を含むMRIを施行した。動脈スピンラベル画像およびFLAIRシーケンスの融合画像から、過灌流部位は左前頭葉の結節周囲皮質にあることが明らかになった。2日目に鎮静状態となったが、中等度の全身けいれんが持続した。4日目に覚醒し、7日目に施設に戻った。抗てんかん薬にラコサミド100mgを1日1回追加投与した。7ヵ月間の経過観察中に全般性強直間代発作はみられなかった。

記述言語：日本語   出版者・発行元：日本脊髄外科学会  

症例は80歳女性で、急な頭痛と嘔気のため救急搬送された。頭部CTで後頭蓋にくも膜下出血を認め、3D-CTAでは頭蓋内に動脈瘤や動脈解離の所見を認めなかった。脊髄血管造影ではC7椎間孔から脊髄へ向かうradiculomedullary arteryを認め、前脊髄動脈から左側で動静脈シャントを形成し、同部位から逆行性に頭側へ向かうdrainerを認め、feeder上に動脈瘤が形成されていた。左C8椎間孔レベルのradicular arteryは同定できず、頸椎perimedullary動静脈瘻(AVF)もしくはradicular AVFと診断した。day29に直達術で前方アプローチにてシャント離断を行い、術中所見からradicular AVFと診断した。動脈瘤を凝固し、その近位部を離断した時点でシャントが消失したため、シャントポイントには操作を加えずfeeder occlusionの形で硬膜内操作を終えた。術後37日目にリハビリテーション病院へ転院し、その後自宅退院した。術後1年目でシャントや動脈瘤再発を認めていない。

DOI： 10.2531/spinalsurg.37.278

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その他リンク： https://search.jamas.or.jp/default/link?pub_year=2023&ichushi_jid=J02943&link_issn=&doc_id=20240112120012&doc_link_id=10.2531%2Fspinalsurg.37.278&url=https%3A%2F%2Fdoi.org%2F10.2531%2Fspinalsurg.37.278&type=J-STAGE&icon=https%3A%2F%2Fjk04.jamas.or.jp%2Ficon%2F00007_3.gif

記述言語：英語   出版者・発行元：(一社)日本てんかん学会  

神経救急分野で広く用いられている1.5テスラのMRI装置を用いて、てんかん患者での交叉性小脳過灌流(CCH)現象を検出できるか試みた。被験者は病変性側頭葉てんかん患者の84歳男性とした。46歳時にバイク事故で脳挫創を負い、当院で保存的治療を受けて日常生活に復帰していた。その約1年後から全般性痙攣発作(CSE)が現れるようになったが、フェニトインで概ね制御できていた。しかし、81歳時には服薬遵守の不良と飲酒が原因で遷延性CSEを発症し、83歳時と84歳時の発症も合わせて計3回のCSEエピソードを経験していた。1.5テスラのMRI装置としてECHELON OVAL V6を使用した。上記したCSEの3エピソードのうち、初回では1日後、2回目では発作の直後、3回目ではその最中にarterial spin labelingによるMRIを実施した。その結果、右脳半球の過灌流に加え、CCHの存在も実証された。右脳半球の過灌流とCCHでは同様の血行動態を示すことなどの詳細も、動脈スピン標識信号から明らかになった。本症例では、1.5テスラでのarterial spin labelingを適用することで、てんかんでのCCH出現に皮質-橋-小脳経路が強く関与していることが証明された。

記述言語：英語   出版者・発行元：(一社)日本てんかん学会  

症例は62歳男性で、意識不明の状態で発見され搬送された。非痙攣性てんかん重積状態であった。アルコール依存症の既往があったが、てんかんの既往はなかった。1.5-Tesla装置を用いて、24時間の間隔をおいて取得したpulsed arterial spin labeling(PASL)とpseudocontinuous ASL(pCASL)画像を比較した。その結果、PASLは動脈一過性アーチファクトの影響が大きいため、てんかん発作前後の過灌流の検出においてpCASLよりやや劣ることが確認された。その後、神経学的障害を伴うことなく退院した。しかし、医療コンプライアンス不良および飲酒により、同様のてんかん発作により交通事故を起こした。他院に入院となり、脳挫傷を含む多発外傷と診断された。

記述言語：英語   出版者・発行元：Surgical Neurology International  

Background: Severe type of segmental spinal dysgenesis (SSD) is a rare and complex anomaly in which the spinal cord completely disconnects at the portion of the spinal dysgenesis. Although closed spinal dysraphisms have been associated with SSD, to the best of our knowledge, the association between open neural tube defect (ONTD) and SSD is significantly rare, with only one case being reported to date. Case Description: We report a case of an infant with severe SSD and a disconnected spinal cord and spinal column at the thoracolumbar junction associated with myelomeningocele (MMC) in the lumbosacral region. The patient presented severe neurological deficits in the legs and impaired bowel function. The spinal column of L1–L3 was absent. The lower spinal segment consisted of neural placode at the L5–S1 level and no connecting structure between the upper and lower spinal cords. A repair surgery for MMC, including cord untethering and dura plasty, was performed. Histopathological findings revealed a neural placode consisting of a neuroglial tissue and leptomeninges. Conclusion: The management of severe SSD during the perinatal period is more challenging when it is associated with ONTD. We report detailed neuroradiological, intraoperative, and histological findings of such a case and discuss the embryopathogenesis of the associated ONTD and the treatment strategies.

DOI： 10.25259/SNI_156_2023

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記述言語：英語   出版者・発行元：Surgical Neurology International  

Background: The retained medullary cord (RMC), caudal lipoma, and terminal myelocystocele (TMCC) are thought to originate from the failed regression spectrum during the secondary neurulation, and the central histopathological feature is the predominant presence of a central canal-like ependyma-lined lumen (CC-LELL) with surrounding neuroglial tissues (NGT), as a remnant of the medullary cord. However, reports on cases in which RMC, caudal lipoma, and TMCC coexist are very rare. Case Description: We present two patients with cystic RMC with caudal lipoma and caudal lipoma with an RMC component, respectively, based on their clinical, neuroradiological, intraoperative, and histopathological findings. Although no typical morphological features of TMCC were noted on neuroimaging, histopathological examination revealed that a CC-LELL with NGT was present in the extraspinal stalk, extending from the skin lesion to the intraspinal tethering tract. Conclusion: This histopathological finding indicates the presence of TMCC that could not be completely regressed and further supports the idea that these pathologies can be considered consequences of a continuum of regression failure during secondary neurulation.

DOI： 10.25259/SNI_479_2023

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記述言語：英語   出版者・発行元：JAPAN EPILEPSY SOCIETY  

<p><i>Introduction</i>: Although drug-resistant epilepsy is a frequent symptom in patients with tuberous sclerosis complex (TSC), there is conflicting evidence regarding whether the epileptogenic zone is present in the tuber itself or in the abnormally developed perituberal cortex.</p><p><i>Case report</i>: A 45-year-old man with TSC developed clustering of generalized tonic-clonic seizures (GTCSs) that lasted for approximately 1 day. Magnetic resonance imaging, including arterial spin labeling (ASL) perfusion images, was performed approximately 4 hours after the last apparent seizure. The fusion image of the ASL and fluid-attenuated inversion recovery sequence clearly demonstrated that the ASL hyperperfusion site was located in the perituberal cortex of the left frontal lobe, where the tubers were most prominent.</p><p><i>Conclusion</i>: The present study suggests epileptogenicity of the perituberal cortex for GTCSs in this patient. In the future, the epileptogenicity of TSC may be further clarified by conducting ictal or periictal ASL in a large number of TSC patients.</p>

DOI： 10.3805/eands.15.75

CiNii Research

記述言語：英語   出版者・発行元：JAPAN EPILEPSY SOCIETY  

<p>The hemodynamics of ictal hyperperfusion in dual pathology was evaluated using arterial spin labeling perfusion images (ASL) with triple postlabeling delays (PLDs). A 62-year-old man with epileptogenic right parietal hematoma cavity and bilateral hippocampal atrophy, particularly on the right, underwent ASL examination during subtle non-convulsive status epilepticus immediately after focal-to-bilateral tonic-clonic seizures. ASL at PLD of 1.5 s showed increased signals in the gray matter of both hemispheres, in addition to the peri-cavitary cortex. At PLD of 1.75 s, these signals were mostly washed out, and there was a marked increase in signals localized to bilateral hippocampal heads. The hippocampal signals were also mostly washed out at PLD of 2.0 s. These findings indicate a close relationship between activities originating from the peri-cavitary cortex and the hippocampus in this case. In terms of the mechanism of hippocampal atrophy, the oxygen supply required for large epileptic activities could not be met.</p>

DOI： 10.3805/eands.15.26

CiNii Research

記述言語：英語   出版者・発行元：(一社)日本てんかん学会  

症例は62歳男性で、てんかん原性右頭頂血腫腔および両側海馬萎縮を呈していた。54歳時および58歳時に自損事故を起こしていた。post labeling delay(PLD) 1.5秒のarterial spin labelingでは、大脳皮質周囲に加え、両側半球灰白質に信号強度の増強がみられた。PLD 1.75秒の場合、これらの信号はほとんど認められず、両側海馬頭部に限局した信号の増加が顕著であった。PLD 2.0秒で海馬の信号も認められなくなった。レベチラセタムを静注し、抗てんかん薬を増量した。その結果、翌日には完全に意識を取り戻し、5日後に退院となった。

記述言語：英語   出版者・発行元：JAPAN EPILEPSY SOCIETY  

<p><i>Introduction:</i> Magnetic resonance (MR) perfusion imaging with arterial spin labeling (ASL) can easily detect periictal hyperperfusion accompanying epileptic seizures. Herein, we report two cases in which ASL performed immediately after a seizure was useful for the initial suspicion of temporal lobe epilepsy (TLE).</p><p><i>Case report:</i> Patients 1 and 2 developed focal-to-bilateral tonic-clonic and focal impaired awareness seizures, respectively, and were subsequently transferred to our facility for out-of-hours service. On emergent ASL MR perfusion imaging, a slight increase in signals from the hippocampus and lateral temporal lobe was observed in both patients. However, routine electroencephalography (EEG) performed from 12 h to two days later showed corresponding paroxysmal discharges only in Patient 2.</p><p><i>Conclusion:</i> These cases suggest that MR imaging with ASL perfusion, which can be performed 24 hours a day, is useful for the initial suspicion of TLE, compensating for the limitation of routine EEG. However, to ensure a definitive diagnosis, it is important to evaluate the result together with clinical history, seizure semiology and findings of other modalities centered on EEG.</p>

DOI： 10.3805/eands.15.67

CiNii Research

記述言語：英語   出版者・発行元：JAPAN EPILEPSY SOCIETY  

<p>Crossed cerebellar diaschisis (CCD) was originally defined as depression of metabolism and blood flow in the cerebellar hemisphere contralateral to a supratentorial lesion in hemispheric stroke. Arterial spin labeling (ASL) magnetic resonance (MR) perfusion imaging with multiple postlabeling delays (PLDs) is useful for non-invasive detection of the hemodynamics of (peri)ictal hyperperfusion. Previous reports using ASL with a 3-Tesla (T) MR machine showed crossed cerebellar hyperperfusion (CCH) associated with supratentorial hyperperfusion, probably through the same mechanism as CCD, in patients with epilepsy during the ictal period. However, there are no reports on 1.5-T ASL, which is widely used in neuroemergencies. Here we evaluated the hemodynamics of (peri) ictal hyperperfusion and CCH using 1.5-T ASL in an 84-year-old man with right lesional temporal lobe epilepsy who experienced three episodes of convulsive status epilepticus (CSE). The ASL obtained was evaluated on fusion images with conventional MR images and subtracting ictal-interictal 1.5-Tesla ASL images co-registered to conventional MR images. Repeated ASL examinations performed 1 day after the first CSE, immediately after the second CSE, and during the third CSE demonstrated CCH in addition to right hemispheric hyperperfusion. The CCH became progressively stronger with increase in visualization of right hemispheric hyperperfusion. Furthermore, both showed the same hemodynamics; the ASL signals increased at PLD of 1.5 s and gradually decreased at PLDs of 1.75 s and 2.0 s. Increase in signal intensity was noted on the right side of the midbrain and pons as well as somwehat in the contralateral cerebellar peduncle. In this case, 1.5-T ASL demonstrated that the cortico-pontine-cerebellar pathway was strongly involved in the development of CCH in epilepsy similar to CCD in stroke.</p>

DOI： 10.3805/eands.15.95

CiNii Research

記述言語：英語   出版者・発行元：JAPAN EPILEPSY SOCIETY  

<p>Arterial spin labeling (ASL) imaging with multiple postlabeling delays (PLD) can demonstrate the hemodynamics of peri-ictal hyperperfusion. Labeling methods include pulsed ASL (PASL) and pseudocontinuous ASL (pCASL). Although PASL is more widely used in daily clinical practice, it has several disadvantages because of lower delivery of labeled magnetization. We compared pCASL and PASL images acquired after a 24-h interval, using a 1.5-Tesla machine, in a 62-year-old man with non-convulsive status epilepticus. The pCASL during electrographic status epilepticus clearly demonstrated that ASL signals in the grey matter of the right hemisphere, particularly in the posteromedial part of the right temporal lobe, increased at PLDs of 1.5 s and 1.75 s and were almost washed out at 2.0 s. Although PASL, which was obtained during the ictal-interictal continuum when there were no changes in ictal findings on diffusion-weighted images, showed a similar trend, the increased signals were less pronounced than those of pCASL, with more contamination of arte-rial transit artifact in the subarachnoid space. Although the electroencephalographic findings were not the same when both ASLs were performed, the present study confirms that PASL is somewhat inferior to pCASL in detecting peri-ictal hyperperfusion because of the greater effect of arterial transient artifacts.</p>

DOI： 10.3805/eands.15.17

CiNii Research

記述言語：英語   出版者・発行元：JAPAN EPILEPSY SOCIETY  

<p><i>Introduction:</i> Arterial spin labeling (ASL) magnetic resonance (MR) perfusion imaging is useful for diagnosing non-convulsive status epilepticus (NCSE) as it visualizes ictal hyperperfusion in epileptically activated areas.</p><p><i>Case report:</i> A 94-year-old woman presented with inability to communicate. An electroencephalogram revealed generalized periodic discharges with triphasic morphology. However, as her liver and kidney function were normal, it was difficult to distinguish metabolic encephalopathy from NCSE. ASL showed not only diffuse hypoperfusion in the cerebral parenchyma, instead of ictal hyperperfusion, but also marked appearance of arterial transit artifact in the major arteries, probably due to stagnant flow. The patient was therefore diagnosed with hyperammonemic encephalopathy (ammonia level 128 mg/dL) induced by constipation. Along with normalization of the ammonia level, the mental status and ASL findings improved.</p><p><i>Conclusion:</i> In this case, ASL helped visualize the decreased blood flow and velocity secondary to hypometabolism. The addition of ASL to conventional MR images may be useful in differentiating metabolic encephalopathy from NCSE, particularly in neuroemergency situations.</p>

DOI： 10.3805/eands.15.59

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記述言語：日本語   出版者・発行元：福岡医学会  

DOI： 10.15017/6788682

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記述言語：日本語  

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記述言語：日本語  

記述言語：日本語   出版者・発行元：(一社)日本内視鏡外科学会  

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記述言語：日本語   出版者・発行元：福岡医学会  

内頸動脈の椎体骨部(pICA)におけるarterial transit artifact(ATA)描出の臨床的意義について、頸動脈ステント留置(CAS)前後の一定時間後(PLD)1.5秒、2.0秒のarterial spin labeling(ASL)所見と造影剤注入後1.5秒、2.0秒のDSA所見を比較検討した。2021年4月～2022年3月の期間に同一術者により行われたCAS症例のうち、術前後にtime-of-flight法によるMRAおよびASLを含むMRIとECD-SPECTを行った9例(全例男性、平均71.3歳)を対象とした。CAS前のASLでは非手術側のpICAのATAはPLD 1.5、2.0秒ともに描出されないか、1.5秒で描出されても2.0秒では消失した。しかし、手術側のpICAは6例において1.5秒で強く描出され、2.0秒でも消失せずに残存した。ICA狭窄におけるpICAのATAがPLD 1.5、2.0秒ともに描出されることは頭蓋内arterial transit timeの遅延を伴うpICA内の血流停滞を意味し、CAS後の消失はこれらの改善を示唆しているものと考えられた。

記述言語：その他   掲載種別：研究論文（学術雑誌）   出版者・発行元：Neuro-Oncology Advances  

Abstract

Background

Copy number alterations (CNAs) are common in diffuse gliomas and have been shown to have diagnostic significance. While liquid biopsy for diffuse glioma has been widely investigated, techniques for detecting CNAs are currently limited to methods such as next-generation sequencing. Multiplex ligation-dependent probe amplification (MLPA) is an established method for copy number analysis in pre-specified loci. In this study, we investigated whether CNAs could be detected by MLPA using patients’ cerebrospinal fluid (CSF).

Methods

Twenty-five cases of adult diffuse glioma with CNAs were selected. Cell-free DNA (cfDNA) was extracted from the CSF, and DNA sizes and concentrations were recorded. Twelve samples, which had appropriate DNA sizes and concentrations, were subsequently used for analysis.

Results

MLPA could be successfully performed in all 12 cases, and the detected CNAs were concordant with those detected using tumor tissues. Cases with epidermal growth factor receptor (EGFR) amplification, combination of gain of chromosome 7 and loss of chromosome 10, platelet-derived growth factor receptor alpha amplification, cyclin-dependent kinase 4 amplification, and cyclin-dependent kinase inhibitor 2A (CDKN2A) homozygous deletion were clearly distinguished from those with normal copy numbers. Moreover, EGFR variant III was accurately detected based on CNA.

Conclusions

Thus, our results demonstrate that copy number analysis can be successfully performed by MLPA of cfDNA extracted from the CSF of patients with diffuse glioma.

DOI： 10.1093/noajnl/vdac178

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その他リンク： https://academic.oup.com/noa/article-pdf/5/1/vdac178/49380652/vdac178.pdf

記述言語：その他   掲載種別：研究論文（学術雑誌）   出版者・発行元：Magnetic Resonance Imaging  

Purpose: To evaluate the accuracy of three-dimensional (3D) chemical exchange saturation transfer (CEST) imaging with a compressed sensing (CS) and sensitivity encoding (SENSE) technique (CS-SENSE) for full z-spectrum acquisition. Methods: All images were acquired on 3-T magnetic resonance imaging (MRI) scanner. In the phantom study, we used the acidoCEST imaging. The phantoms were prepared in seven vials containing different concentrations of iopamidol mixed in phosphate-buffered solution with different pH values. The CEST ratios were calculated from the two CEST effects. We compared the CEST ratios obtained with three different 3D CEST imaging protocols (CS-SENSE factor 5, 7, 9) with those obtained with the 2D CEST imaging as a reference standard. In the clinical study, 21 intracranial tumor patients (mean 49.7 ± 17.2 years, 7 males and 14 females) were scanned. We compared the intratumor magnetization transfer ratio asymmetry (MTRasym) obtained with 3D CEST imaging with those obtained with 2D CEST imaging as a reference standard. Results: A smaller CS-SENSE factor resulted in higher agreement and better correlations with the 2D CEST imaging in the phantom study (CS-SENSE 5; ICC = 0.977, R2 = 0.8943, P < 0.0001: CS-SENSE 7; ICC = 0.970, R2 = 0.9013, P < 0.0001: CS-SENSE 9; ICC = 0.934, R2 = 0.8156 P < 0.0001). In the brain tumors, the means and percentile values of MTRasym at 2.0 and 3.5 ppm showed high linear correlations (R2 = 0.7325–0.8328, P < 0.0001) and high ICCs (0.859–0.907), which enabled successful multi-slice CEST imaging. Conclusions: The 3D CEST imaging with CS-SENSE provided equivalent contrast to 2D CEST imaging; moreover, a z-spectrum with a wide scan range could be obtained.

DOI： 10.1016/j.mri.2022.05.014

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記述言語：日本語  

記述言語：日本語  

記述言語：その他   掲載種別：研究論文（学術雑誌）   出版者・発行元：Scientific Scholar  

Background:

Cerebrospinal fluid (CSF) leakage is a common complication of ventriculoperitoneal shunt (VPS) and has the potential to induce shunt infection. Especially in infants and children, these are serious complications. DuraGen is a collagen matrix dural substitute used to reduce the risk of CSF leakage in various neurosurgeries. We report our VPS procedure with DuraGen for preventing postoperative CSF leakage in patients aged &lt;1 year.

Methods:

We used DuraGen to prevent postoperative CSF leakage in six VPS surgeries. Antibiotic-impregnated shunt catheters and programmable valves with anti-siphon devices were also used in all cases. DuraGen was placed inside and atop the burr hole. All cases had an initial shunt pressure of 5 cmH2O. Fibrin glue was not used.

Results:

The patients underwent follow-up for a year after VPS surgery. There was no postoperative subcutaneous CSF collection or leakage after all six VPS surgeries. Furthermore, no postoperative shunt infections or DuraGen-induced adverse events were noted.

Conclusion:

We speculate that DuraGen has a preventive effect on postoperative CSF leakage in VPS cases aged &lt;1 year.

DOI： 10.25259/sni_629_2022

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その他リンク： http://surgicalneurologyint.com/surgicalint-articles/the-collagen-matrix-dural-substitute-graft-prevents-postoperative-cerebrospinal-fluid-leakage-after-ventriculoperitoneal-shunt-surgery-in-patients-aged-1-year/

記述言語：英語   掲載種別：研究論文（学術雑誌）   出版者・発行元：Oncogenesis  

Abstract

Glioblastoma is a difficult-to-cure disease owing to its malignancy. Under normal circumstances, cancer is dependent on the glycolytic system for growth, and mitochondrial oxidative phosphorylation (OXPHOS) is not well utilized. Here, we investigated the efficacy of mitochondria-targeted glioblastoma therapy in cell lines including U87MG, LN229, U373, T98G, and two patient-derived stem-like cells. When glioblastoma cells were exposed to a glucose-starved condition (100 mg/l), they rely on mitochondrial OXPHOS for growth, and mitochondrial translation product production is enhanced. Under these circumstances, drugs that inhibit mitochondrial translation, called antimicrobial agents, can cause mitochondrial dysfunction and thus can serve as a therapeutic option for glioblastoma. Antimicrobial agents activated the nuclear factor erythroid 2-related factor 2–Kelch-like ECH-associated protein 1 pathway, resulting in increased expression of heme oxygenase-1. Accumulation of lipid peroxides resulted from the accumulation of divalent iron, and cell death occurred via ferroptosis. In conclusion, mitochondrial OXPHOS is upregulated in glioblastoma upon glucose starvation. Under this condition, antimicrobial agents cause cell death via ferroptosis. The findings hold promise for the treatment of glioblastoma.

DOI： 10.1038/s41389-022-00437-z

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その他リンク： https://www.nature.com/articles/s41389-022-00437-z

記述言語：英語   出版者・発行元：Pathology Research and Practice  

We reported a case of molecularly defined isocitrate dehydrogenase (IDH)-mutant astrocytoma that recurred twice with aggressive behavior and increased anaplastic morphology. Primary and recurrent tumors were analyzed using custom-made DNA-based cancer gene and RNA-based fusion panels for next-generation sequencing (NGS). NGS analyses revealed that recurrent astrocytoma, in addition to IDH1 and tumor protein 53 mutations detected in the primary lesion, harbored cyclin-dependent kinase inhibitor (CDKN) 2 A/B homozygous deletion and neurotrophic tropomyosin receptor kinase 2 (NTRK2) fusion genes that consisted of golgin A1- and cyclin-dependent kinase 5 regulatory subunit associated protein 2-NTRK2 fusions. Anaplasia and necrosis were observed in the recurrent tumors, but not in the primary lesion. Therefore, the integrative diagnosis was primary IDH-mutant astrocytoma grade 2 and recurrent IDH-mutant astrocytoma grade 4 with NTRK2 fusions. This is a worthwhile report describing a case of IDH-mutant astrocytoma that showed genomic evolution during tumor recurrence. Our report suggests that NTRK fusion and CDKN2A/B homozygous deletion promote high-grade transformation and indicate an unfavorable prognosis of IDH-mutant astrocytoma.

DOI： 10.1016/j.prp.2022.154163

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記述言語：日本語   出版者・発行元：(一社)日本臨床神経生理学会  

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記述言語：日本語   出版者・発行元：(一社)日本臨床神経生理学会  

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記述言語：その他   掲載種別：研究論文（学術雑誌）   出版者・発行元：Interdisciplinary Neurosurgery: Advanced Techniques and Case Management  

Purpose: Retained medullary cord (RMC) is a condition in which the cord-like structure (C-LS) is continuous from the conus and extends to the dural cul-de-sac, causing spinal cord tethering, which is thought to originate from the secondary neurulation failure. Although diagnostic criteria for RMC have not yet been fully established, the following three items are generally considered important: (1) Typical morphological features on neuroimaging and intraoperative view. (2) The electrophysiological border between the conus and C-LS. (3) Ependyma-lined canal with surrounding neuroglial tissues (E-LC w/NGT) on histopathological examination of C-LS. To clarify the differences with caudal lipoma, which are also considered to be secondary neurulation disorders, in their embryological backgrounds, the clinicopathophysiological findings were compared. Methods: Five patients with RMC and 11 with caudal lipomas participated in this study. Results: All five patients with RMC naturally satisfied all three items. Four patients histopathologically showed a small amount of fibroadipose tissue. Regarding the first item in caudal lipoma, neuroimages demonstrated C-LS running parallel with or in the lipoma in all patients. In terms of the second item, the electrophysiological border was identified in 3 out of 4 patients in whom a sufficient operative field was obtained. Concerning the third item, E-LC w/NGT was noted in 6 of 7 patients in whom the lipoma was resected as a column. Areas of fibroadipose tissue histopathologically accounted for more than half of the total area. Conclusion: The caudal lipomas fulfilled most of the three items, and the only prominent difference between these two is the difference in the proportions of fibroadipose and fibrocollagenous tissues. These findings provide further evidence for the idea that RMC and caudal lipoma can be considered consequences of a continuum of regression failure during secondary neurulation, and it may not be possible to distinguish between the two clearly.

DOI： 10.1016/j.inat.2022.101534

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記述言語：英語  

記述言語：英語  

記述言語：英語  

記述言語：英語  

記述言語：英語  

記述言語：日本語   掲載種別：研究論文（学術雑誌）   出版者・発行元：株式会社医学書院  

It is often difficult to distinguish infectious disease of the central nervous system from a wide variety of non-infectious diseases, as neurosurgeons have few opportunities to treat them. Differentiation of infectious diseases from neoplastic diseases is often challenging. Since it often takes time to eliminate infectious diseases, it is necessary to utilize all the obtained medical information to make a proper diagnosis to avoid missing the appropriate chance of surgical treatment. In this paper, we describe tips for and pitfalls of accurately distinguishing such diseases, including brain abscess versus glioblastoma, meningitis versus dural lesions, and infection versus lymphoproliferative disorders in immunocompromised patients. In these cases, it is difficult to make a decision based only on the examination and imaging findings on admission, and it is important to make a diagnosis based on medical history and patient background.

DOI： 10.11477/mf.1436204658

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記述言語：英語  

記述言語：英語   掲載種別：研究論文（学術雑誌）   出版者・発行元：Scientific Reports  

Glioblastoma is the most common brain tumor with dismal outcomes in adults. Metabolic remodeling is now widely acknowledged as a hallmark of cancer cells, but glioblastoma-specific metabolic pathways remain unclear. Here we show, using a large-scale targeted proteomics platform and integrated molecular pathway-level analysis tool, that the de novo pyrimidine synthesis pathway and serine synthesis pathway (SSP) are the major enriched pathways in vivo for patients with glioblastoma. Among the enzymes associated with nucleotide synthesis, RRM1 and NME1 are significantly upregulated in glioblastoma. In the SSP, SHMT2 and PSPH are upregulated but the upstream enzyme PSAT1 is downregulated in glioblastoma. Kaplan-Meier curves of overall survival for the GSE16011 and The Cancer Genome Atlas datasets revealed that high SSP activity correlated with poor outcome. Enzymes relating to the pyrimidine synthesis pathway and SSP might offer therapeutic targets for new glioblastoma treatments.

DOI： 10.1038/s41598-022-20613-w

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記述言語：日本語   出版者・発行元：(公社)日本医学放射線学会  

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記述言語：英語   出版者・発行元：(一社)日本癌学会  

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記述言語：英語   出版者・発行元：(一社)日本癌学会  

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記述言語：英語   出版者・発行元：(一社)日本脳神経外科学会  

日本人患者のびまん性神経膠腫にみられる、分子遺伝学的プロファイルについて調査した。著者等の大学で収集した、びまん性神経膠腫患者303例の腫瘍組織試料を用いて、神経膠腫に特化した遺伝子パネルから、分子遺伝学的プロファイルを解析した。その結果、膠芽腫(GBM)患者185例に最も変異が多く認められた遺伝子は、TERTp遺伝子、TP53遺伝子、PTEN遺伝子、NF1遺伝子とPDGFRA遺伝子であった。また、欠失が最も多く認められた遺伝子は、PTEN遺伝子およびCDKN2A/B及びRB1遺伝子で、増加/増幅が最も多く認められた遺伝子は、EGFR遺伝子とPDGFRA遺伝子およびCDK4遺伝子であった。さらに、グレードIII乏突起膠腫22例のうち3例には、CDKN2A/B遺伝子のホモ接合性欠失が、4例にはARID1A遺伝子変異が検出され、ARID1A遺伝子変異が無増悪生存転帰不良と関連することが示唆された。なお、WHO脳腫瘍分類2021により、グレードII/IIIでIDH野生型星状細胞腫の62.5%が、IDH野生型のGBMに再分類された。本報により、神経膠腫に特化した遺伝子パネルが、WHO脳腫瘍分類2021に準じた分子診断に適用可能であることが確認された。

記述言語：英語   出版者・発行元：World Neurosurgery  

Objective: The long-term outcomes of cognitive function in moyamoya disease remain unknown. We aimed to assess 5-year changes in cognitive function in adult moyamoya disease patients and to evaluate the value of the magnetic resonance angiography (MRA) steno-occlusive score to predict cognitive changes. Methods: Participants comprised 20 consecutive patients whose cognitive functions had been evaluated using the Frontal Assessment Battery (FAB) and Neurobehavioral Cognitive Status Examination (Cognistat) at baseline and reassessed 5 years later. Results: The total FAB score and total Cognistat score were lower after 5 years in 9 patients each. The Wilcoxon signed-rank test showed that subscores for conceptualization and comprehension increased, while subscores for mental flexibility, programming, and inhibitory control significantly decreased after 5 years. The right MRA total score and right posterior cerebral artery score were negatively associated with 5-year changes in the total FAB score and total Cognistat score. The right posterior cerebral artery score was significantly associated with changes in subscores for mental flexibility, programming, sensitivity to interference, and construction. Conclusions: Specific cognitive domains can decline over time in patients with adult moyamoya disease. MRA findings might be useful for predicting future declines in cognitive function.

DOI： 10.1016/j.wneu.2022.06.055

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記述言語：英語   出版者・発行元：(一社)日本癌学会  

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記述言語：英語   出版者・発行元：(一社)日本癌学会  

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記述言語：日本語   出版者・発行元：(株)医学書院  

＜文献概要＞Point ・感染性疾患との鑑別を要する疾患群は多岐にわたるが,脳神経外科医にとっては診療機会の少ない疾患もあり,鑑別疾患を慎重に想起しながら診療にあたる必要がある.・画像所見のみでは,感染と腫瘍性疾患や自己免疫疾患などとの鑑別が困難な場合も多く,病歴や患者背景をもとに病態の把握に努めることが肝要である.

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その他リンク： https://search.jamas.or.jp/default/link?pub_year=2022&ichushi_jid=J01228&link_issn=&doc_id=20220928260011&doc_link_id=10.11477%2Fmf.1436204658&url=https%3A%2F%2Fdoi.org%2F10.11477%2Fmf.1436204658&type=%E5%8C%BB%E6%9B%B8.jp_%E3%82%AA%E3%83%BC%E3%83%AB%E3%82%A2%E3%82%AF%E3%82%BB%E3%82%B9&icon=https%3A%2F%2Fjk04.jamas.or.jp%2Ficon%2F00024_2.gif

出版者・発行元：Interdisciplinary Neurosurgery: Advanced Techniques and Case Management  

Background: Sulcal hyperintensity on magnetic resonance images with fluid-attenuated inversion recovery sequences (FLAIR) can occur in patients without apparent cerebrospinal fluid (CSF) abnormalities. Taoka et al. speculated that pathological increases of the blood pool to CSF ratio within the sulcus, which could be caused by alterations in regional hemodynamics including venous congestion, do not suppress water signals on FLAIR images. However, few previous reports have described sulcal hyperintensity in patients with chronic subdural hematoma (CSDH). Methods: To demonstrate the pathophysiological mechanism and clinical significance of sulcal hyperintensity in CSDH, we retrospectively reviewed the chronological changes in clinical, electroencephalographic (EEG), and neuroradiological findings, including arterial spin labeling perfusion magnetic resonance imaging (ASL) with dual post-labeling delays (PLDs) of 1.5 and 2.5 s, of three patients who had sulcal hyperintensity. Results: In all three cases, sulcal hyperintensity was observed just below the CSDH with mass effect, and became more prominent as it went to the vertex. In patients 1 and 2, ASL with dual PLDs showed a prolonged arterial transit time (ATT) in the region with sulcal hyperintensity, and the sulcal hyperintensity disappeared along with the improvement of the prolonged ATT. In patient 3, in whom the degree of sulcal hyperintensity was mild, the prolongation of ATT was also very mild. In patient 2, a coinciding ictal EEG and ASL hyperperfusion findings were present in the cortex showing sulcal hyperintensity. In patients 1 and 3, the laterality of the sulcal hyperintensity was consistent with that of the epileptic symptoms, which were controlled by the administration of antiepileptic drugs. Conclusion: Although further studies with a larger number of patients are needed, the pathophysiological mechanism of sulcal hyperintensity in CSDH could be explained by the idea proposed by Taoka et al. Our findings also indicate that sulcal hyperintensity has a possible relationship with the development of epilepsy in the perioperative period of CSDH.

DOI： 10.1016/j.inat.2022.101571

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記述言語：英語   出版者・発行元：(一社)日本癌学会  

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記述言語：英語   出版者・発行元：(一社)日本癌学会  

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記述言語：英語   掲載種別：研究論文（学術雑誌）   出版者・発行元：一般社団法人 日本脳神経外科学会  

Rapid technological advances in molecular biology, including next-generation sequencing, have identified key genetic alterations in central nervous system (CNS) tumors. Accordingly, the fifth edition of the World Health Organization (WHO) CNS tumor classification was published in 2021. We analyzed 303 patients with diffuse glioma using an amplicon-based glioma-tailored gene panel for detecting 1p/19q codeletion and driver gene mutations such as IDH1/2, TERTp, EGFR, and CDKN2A/B on a single platform. Within glioblastomas (GBMs), the most commonly mutated genes were TERTp, TP53, PTEN, NF1, and PDGFRA, which was the most frequently mutated tyrosine kinase receptor in GBM, followed by EGFR. The genes that most commonly showed evidence of loss were PTEN, CDKN2A/B, and RB1, whereas the genes that most commonly showed evidence of gain/amplification were EGFR, PDGFRA, and CDK4. In 22 grade III oligodendroglial tumors, 3 (14&#37;) patients had CDKN2A/B homozygous deletion, and 4 (18&#37;) patients had ARID1A mutation. In grade III oligodendroglial tumors, an ARID1A mutation was associated with worse progression-free survival. Reclassification based on the WHO 2021 classification resulted in 62.5&#37; of grade II/III isocitrate dehydrogenase (IDH) -wildtype astrocytomas being classified as IDH-wildtype GBM and 37.5&#37; as not elsewhere classified. In summary, our glioma-tailored gene panel was applicable for molecular diagnosis in the WHO 2021 classification. In addition, we successfully reclassified the 303 diffuse glioma cases based on the WHO 2021 classification and clarified the genetic profile of diffuse gliomas in the Japanese population.

DOI： 10.2176/jns-nmc.2022-0103

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記述言語：日本語  

記述言語：日本語   出版者・発行元：(一社)日本てんかん学会  

J-GLOBAL

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記述言語：英語  

DOI： 10.7759/cureus.26534

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記述言語：日本語  

記述言語：日本語  

術前後放射線治療を必要とした脳腫瘍手術におけるコラーゲン吸収性人工硬膜の安全性を、髄液漏発生頻度を指標として検討した。脳腫瘍手術のうち、吸収性人工硬膜であるDuraGenを用いて硬膜閉鎖したもののその後の経過において放射線治療を追加せざるを得なかった症例、放射線治療後の手術においてDuraGenを使用せざるを得なかった114例(男性57例、女性57例、中央値51歳)を対象とした。脳脊髄液漏は5例(4.4&#37;)に認められ、42～90歳で男性1名、女性4名であり、原疾患はそれぞれ膠芽腫、退形成性髄膜腫、異型性髄膜腫、軟骨肉腫、頭蓋咽頭腫で、いずれもテント上硬膜の閉鎖にDuraGenが用いられていた。髄液漏を認めた5例のうち2例は感染の関与が示唆されたため、外科的にDuraGen除去および硬膜再建術が施行された。DuraGenを用いて硬膜閉鎖を行っても、放射線治療により追加手技を要するような髄液漏発生リスクは増加しないと考えられた。

記述言語：その他   掲載種別：研究論文（学術雑誌）   出版者・発行元：Surgical Neurology International  

Background:

Angiolipomas are benign mesenchymal tumors comprising mature adipocytes and abnormal blood vessels, commonly found in the subcutaneous tissue of the trunk and rarely in the skull. Furthermore, sporadic cases of angiolipoma with arteriovenous fistula (AVF) have been reported.

Case Description:

We reported the case of a 72-year-old woman who presented with head swelling, seizures, and cognitive dysfunction. Computed tomography and magnetic resonance imaging revealed a right frontal bone tumor exceeding a sagittal suture of up to 10.7 cm. Angiography revealed AVF and varices formation. Endovascular embolization was performed to treat the AVF and reduce blood loss during surgical resection. Two days after the embolization, a craniotomy was performed; however, uncontrollable bleeding was observed at the time of tumor resection. Postoperatively, the patient was symptom-free and has been stable for 2 years without recurrence.

Conclusion:

Despite careful preoperative evaluation and treatment planning, the patient in this case report was difficult to treat. Such cases require adequate preparation.

DOI： 10.25259/sni_422_2022

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その他リンク： http://surgicalneurologyint.com/surgicalint-articles/giant-cranial-angiolipoma-with-arteriovenous-fistula-a-case-report/

記述言語：英語   出版者・発行元：(一社)日本脳卒中の外科学会  

頭蓋内軟膜動静脈瘻(pial arteriovenous fistula:pAVF)はまれな疾患で、頭蓋内血管奇形のうち1.6%程度と報告されている。流出静脈への強い血行力学的負荷により形成された静脈瘤は、mass effectから巣症状の原因となり、また致死的な頭蓋内出血につながる可能性があるため、治療を考慮する必要がある。われわれは症候性のpAVFに対し血管内治療と摘出術を行った1例を経験した。症例は15歳、女性。頭痛精査で視野障害と右後頭葉に最大径53mmの巨大腫瘤を指摘された。各種精査を行い、右後大脳動脈をfeederとし、横静脈洞に流出する血栓化静脈瘤を伴うpAVFと診断した。mass effect除去および根治のため複合治療を行う方針とした。まず血管内治療を施行し、shunt pointを中心に塞栓術を行い、flow reductionは得られたが新たなshunt flowも出現した。翌日、開頭術では塞栓術の効果もあり安全に摘出できた。新たな脱落症状なく自宅退院し、病理所見では肉眼的にfeeder、drainerが確認でき、シャントポイントと合致する部分で弾性板の消失を認めていた。pAVFの治療において血管内治療での報告が増えてきているが、特に静脈瘤によるmass effectを伴う症例に関しては、複合治療を行うことで安全に摘出することができる。(著者抄録)

記述言語：日本語   出版者・発行元：(株)メディカ出版  

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記述言語：日本語   出版者・発行元：(株)メディカ出版  

術前後放射線治療を必要とした脳腫瘍手術におけるコラーゲン吸収性人工硬膜の安全性を、髄液漏発生頻度を指標として検討した。脳腫瘍手術のうち、吸収性人工硬膜であるDuraGenを用いて硬膜閉鎖したもののその後の経過において放射線治療を追加せざるを得なかった症例、放射線治療後の手術においてDuraGenを使用せざるを得なかった114例(男性57例、女性57例、中央値51歳)を対象とした。脳脊髄液漏は5例(4.4%)に認められ、42～90歳で男性1名、女性4名であり、原疾患はそれぞれ膠芽腫、退形成性髄膜腫、異型性髄膜腫、軟骨肉腫、頭蓋咽頭腫で、いずれもテント上硬膜の閉鎖にDuraGenが用いられていた。髄液漏を認めた5例のうち2例は感染の関与が示唆されたため、外科的にDuraGen除去および硬膜再建術が施行された。DuraGenを用いて硬膜閉鎖を行っても、放射線治療により追加手技を要するような髄液漏発生リスクは増加しないと考えられた。

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記述言語：日本語   出版者・発行元：(株)メディカ出版  

術前後放射線治療を必要とした脳腫瘍手術におけるコラーゲン吸収性人工硬膜の安全性を、髄液漏発生頻度を指標として検討した。脳腫瘍手術のうち、吸収性人工硬膜であるDuraGenを用いて硬膜閉鎖したもののその後の経過において放射線治療を追加せざるを得なかった症例、放射線治療後の手術においてDuraGenを使用せざるを得なかった114例(男性57例、女性57例、中央値51歳)を対象とした。脳脊髄液漏は5例(4.4%)に認められ、42～90歳で男性1名、女性4名であり、原疾患はそれぞれ膠芽腫、退形成性髄膜腫、異型性髄膜腫、軟骨肉腫、頭蓋咽頭腫で、いずれもテント上硬膜の閉鎖にDuraGenが用いられていた。髄液漏を認めた5例のうち2例は感染の関与が示唆されたため、外科的にDuraGen除去および硬膜再建術が施行された。DuraGenを用いて硬膜閉鎖を行っても、放射線治療により追加手技を要するような髄液漏発生リスクは増加しないと考えられた。

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記述言語：日本語   出版者・発行元：The Mt. Fuji Workshop on CVD事務局  

もやもや病に対するSTA-MCAバイパス術後の過灌流症候群(CHS)の発症を術前に予測することは現在困難である。以前、ハイパースペクトルカメラ(HSC)によって脳表血流を評価できることを報告した。HSCは、可視域にわたる脳皮質表面の連続スペクトルデータ(ハイパースペクトル画像データ)を撮影し、このデータを光学的固有信号に変換することで、脳表の酸素飽和度を算出することができる。今回、HSCを用いてSTA-MCAバイパス術前後の脳表皮質の酸素飽和度を算出し、脳血流を評価することでCHSを予測できるのではないかと考え、自験例で検証を行った。対象は2018～2020年にSTA-MCAバイパス術を行った患者29例とした。神経学的症状やSPECT所見からCHSと診断されたのは5例で、この5例(CHS群)と他の24例(非CHS群)とで脳表皮質の酸素飽和度を比較するとCHS群が有意に高かった(33±28% vs 8±14%)。酸素飽和度増加率のROC分析を行った結果、酸素飽和度の15%以上の増加があれば術後CHSを予測しうることが示された(感度85.0%、特異度81.3%)。

記述言語：その他   掲載種別：研究論文（学術雑誌）   出版者・発行元：Interdisciplinary Neurosurgery: Advanced Techniques and Case Management  

Introduction: Limited dorsal myeloschisis (LDM) with nonsaccular (flat) skin lesions has features similar to those of congenital dermal sinus (CDS); both show a tethering tract extending from the skin lesion to the intraspinal space. CDS may be found within the fibroneural LDM stalk because of the shared origin of the LDM and CDS. Thus, it can be difficult to distinguish between LDM and CDS. We surgically treated a boy in whom CDS and filar lipoma were located in close proximity to each other at the dural cul-de-sac, mimicking flat LDM. Herein, we describe the comprehensive clinicopathological findings of this patient. Case presentation: The patient was noted at birth to have a small dimple in the lumbosacral region. Magnetic resonance images showed a slender tethering tract that started from the skin lesion, entered the dural sac through the dural cul-de-sac, and joined the low-lying conus at L2-3, which is characteristic of LDM. However, the operative and histopathological findings revealed that the epidural stalk was pure CDS, terminating at the dura, and that the intradural stalk was a filar lipoma. Both were present in close proximity at the dural cul-de-sac and were approximately 1 mm in diameter. Conclusion: The diagnosis of LDM and CDS should be established on the basis of a comprehensive analysis of clinical, neuroradiological, operative, and histopathological findings.

DOI： 10.1016/j.inat.2021.101455

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記述言語：その他   掲載種別：研究論文（学術雑誌）   出版者・発行元：Surgical Neurology International  

Background:

We previously found the usefulness of dural sac shrinkage signs (DSSSs), which are the anterior shift of the spinal cord and dura mater behind the cord, detected by magnetic resonance imaging (MRI) at the thoracic level for the diagnosis of spontaneous intracranial hypotension (IH). This is a retrospective survey on the usefulness of DSSSs for the early detection of iatrogenic IH caused by overdrainage through a lumboperitoneal shunt (LPS) for patients with idiopathic normal pressure hydrocephalus (INPH).

Methods:

Forty-five INPH patients had an LPS using a pressure programmable valve equipped with an anti-siphon device.

Results:

Nine patients complained of orthostatic headache after the LPS, indicating IH due to overdrainage, which persisted for more than a week in three patients and 2–7days in six patients. The headache was transient/ nonorthostatic in ten patients and absent in 26 patients. The DSSSs and accompanying enlargement of the venous plexus were observed in all three patients with prolonged orthostatic headaches. Only the anterior shift of the dura mater was observed in 1 (4&#37;) among 25 patients who had short-term orthostatic headache, transient/ nonorthostatic headache, or absent headache, and underwent spinal MRI. A patient with prolonged severe orthostatic headache with both DSSSs eventually developed intracranial subdural effusion and underwent tandem valve surgery, which provided a quick improvement of symptoms. The DSSSs on thoracic MRI also disappeared promptly.

Conclusion:

DSSSs may serve as objective signs for the diagnosis of IH due to overdrainage through an LPS for INPH.

DOI： 10.25259/sni_291_2022

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その他リンク： http://surgicalneurologyint.com/surgicalint-articles/dural-sac-shrinkage-signs-on-spinal-magnetic-resonance-imaging-indicate-overdrainage-after-lumboperitoneal-shunt-for-idiopathic-normal-pressure-hydrocephalus/

記述言語：日本語  

＜文献概要＞Point ●髄膜腫では遺伝子変異と臨床学的特徴との関連を認める.特にTERTプロモーター変異は臨床経過を予測する有用な分子マーカーであることが示唆されている.●髄膜腫では,遺伝子変異以外に,網羅的なメチル化に基づく新たな分類法の有用性も報告されている.●扁平上皮乳頭型頭蓋咽頭腫ではBRAF V600E変異を認め,MAPKシグナル伝達経路を阻害する標的薬の有効性が報告されている.●良性脳腫瘍でも遺伝子変異による新しい腫瘍分類や,遺伝子変異に合わせた標的治療を採用するprecision medicineが発展しつつある.

記述言語：英語   掲載種別：研究論文（学術雑誌）   出版者・発行元：Cancer Medicine  

BACKGROUND: We aimed to evaluate the mutation profile, transcriptional variants, and prognostic impact of the epidermal growth factor receptor (EGFR) gene in isocitrate dehydrogenase (IDH)-wildtype glioblastomas (GBMs). METHODS: We sequenced EGFR, evaluated the EGFR splicing profile using a next-generation sequencing oncopanel, and analyzed the outcomes in 138 grade IV IDH-wildtype GBM cases. RESULTS: EGFR mutations were observed in 10&#37; of GBMs. A total of 23.9&#37; of the GBMs showed EGFR amplification. Moreover, 25&#37; of the EGFR mutations occurred in the kinase domain. Notably, EGFR alterations were a predictor of good prognosis (p = 0.035). GBM with EGFR alterations was associated with higher Karnofsky Performance Scale scores (p = 0.014) and lower Ki-67 scores (p = 0.005) than GBM without EGFR alterations. EGFRvIII positivity was detected in 21&#37; of EGFR-amplified GBMs. We identified two other EGFR variants in GBM cases with deletions of exons 6-7 (Δe 6-7) and exons 2-14 (Δe 2-14). In one case, the initial EGFRvIII mutation transformed into an EGFR Δe 2-14 mutation during recurrence. CONCLUSIONS: We found that the EGFR gene profiles of GBM differ among cohorts and that EGFR alterations are good prognostic markers of overall survival in patients with IDH-wildtype GBM. Additionally, we identified rare EGFR variants with longitudinal and temporal transformations of EGFRvIII.

DOI： 10.1002/cam4.4939

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記述言語：英語   出版者・発行元：John Wiley & Sons Australia, Ltd  

高齢患者の内側側頭葉に発症した、BRAF変異を伴わずH3 K27M変異を伴った、グレード3神経節膠腫の稀少例を報告した。症例は56歳男性で、一過性の視野欠損を主訴に、他院に来院した。MRI所見では左側頭葉に腫瘍を認め、生検により、びまん性星細胞腫と病理診断されたが、18ヵ月の経過観察の間に病変が徐々に増大し、生検から36ヵ月後に施行したT1強調画像でガドリウム増強が認められたため、九州大学病院脳神経外科に紹介された。治療では腫瘍切除術が行われ、切除試料の組織学的検査から、グレード3の神経節膠腫と診断され、テモゾロミドによる同時化学放射線治療が施行された。治療サイクル2サイクル後に病状進行による悪化はみられたが、腫瘍切除術後23ヵ月以上の生存転帰が得られた。なお、Sanger法によるシーケンス解析と高感度融解曲線解析をIDH1遺伝子、IDH2遺伝子、BRAF遺伝子、H3F3A遺伝子の各遺伝子について行ったところ、IDH1/2やBRAF V600E遺伝子変異は検出されなかったが、H3 K27M遺伝子変異が検出された。

記述言語：日本語   出版者・発行元：(株)医学書院  

＜文献概要＞Point ●髄膜腫では遺伝子変異と臨床学的特徴との関連を認める.特にTERTプロモーター変異は臨床経過を予測する有用な分子マーカーであることが示唆されている.●髄膜腫では,遺伝子変異以外に,網羅的なメチル化に基づく新たな分類法の有用性も報告されている.●扁平上皮乳頭型頭蓋咽頭腫ではBRAF V600E変異を認め,MAPKシグナル伝達経路を阻害する標的薬の有効性が報告されている.●良性脳腫瘍でも遺伝子変異による新しい腫瘍分類や,遺伝子変異に合わせた標的治療を採用するprecision medicineが発展しつつある.

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記述言語：英語   掲載種別：研究論文（学術雑誌）   出版者・発行元：Neuro-Oncology  

Abstract

Background

Central nervous system (CNS) germ cell tumors (GCTs) are neoplasms predominantly arising in pediatric and young adult populations. While germinomas generally respond to chemotherapy and radiation, non-germinomatous GCTs (NGGCTs) require more intensive treatment. This study aimed to determine whether 12p gain could predict the prognosis of CNS GCTs.

Methods

Eighty-two CNS GCTs were included in this study. The 12p gain was defined by an additional 12p in the background of potential polyploidy or polysomy. Cases were analyzed using an Illumina methylation 450K array for copy number investigations and validated by fluorescence in situ hybridization (FISH).

Results

A 12p gain was found in 25-out-of-82 cases (30&#37;) and was more frequent in NGGCTs (12&#37; of germinoma cases and 50&#37; of NGGCT cases), particularly in cases with malignant components, such as immature teratoma, yolk sac tumor, choriocarcinoma, and embryonal carcinoma. 12p gain and KIT mutation were mutually exclusive events. The presence of 12p gain correlated with shorter progression-free (PFS) and overall survival (OS) (10-year OS: 59&#37; vs. 94&#37;, with and without 12p gain, respectively, P = 0.0002), even with histology and tumor markers incorporated in the multivariate analysis. Among NGGCTs, 12p gain still had prognostic significance for PFS and OS (10-year OS: 47&#37; vs. 90&#37;, respectively, P = 0.02). The 12p copy number status was shared among histological components in mixed GCTs.

Conclusions

12p gain may predict the presence of malignant components of NGGCTs, and poor prognosis of the patients. It may be associated with early tumorigenesis of CNS GCT.

DOI： 10.1093/neuonc/noab246

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その他リンク： https://academic.oup.com/neuro-oncology/article-pdf/24/5/834/43548783/noab246.pdf

記述言語：日本語  

記述言語：日本語  

記述言語：日本語  

記述言語：日本語  

記述言語：日本語   出版者・発行元：日本脳腫瘍病理学会  

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記述言語：日本語   出版者・発行元：日本脳腫瘍病理学会  

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記述言語：日本語   出版者・発行元：日本脳腫瘍病理学会  

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記述言語：日本語   出版者・発行元：日本脳腫瘍病理学会  

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記述言語：日本語  

記述言語：日本語  

記述言語：日本語  

記述言語：英語   掲載種別：研究論文（学術雑誌）   出版者・発行元：Surgical Neurology International  

Background:

Recent our reports showed that 3-T pseudocontinuous arterial spin labeling (3-T pCASL) magnetic resonance perfusion imaging with dual post labeling delay (PLD) of 1.5 and 2.5 s clearly demonstrated the hemodynamics of ictal hyperperfusion associated with non-convulsive status epilepticus (NCSE). We aimed to examine the utility of 1.5-T pulsed arterial spin labeling (1.5-T PASL), which is more widely available for daily clinical use, for detecting ictal hyperperfusion.

Methods:

We retrospectively analyzed the findings of 1.5-T PASL with dual PLD of 1.5 s and 2.0 s in six patients and compared the findings with ictal electroencephalographic (EEG) findings.

Results:

In patients 1 and 2, we observed the repeated occurrence of ictal discharges (RID) on EEG. In patient 1, with PLDs of 1.5 s and 2.0 s, ictal ASL hyperperfusion was observed at the site that matched the RID localization. In patient 2, the RID amplitude was extremely low, with no ictal ASL hyperperfusion. In patient 3 with lateralized periodic discharges (LPD), we observed ictal ASL hyperperfusion at the site of maximal LPD amplitude, which was apparent at a PLD of 2.0 s but not 1.5 sec. Among three patients with rhythmic delta activity (RDA) of frequencies <2.5 Hz (Patients 4–6), we observed obvious and slight increases in ASL signals in patients 4 and 5 with NCSE, respectively. However, there was no apparent change in ASL signals in patient 6 with possible NCSE.

Conclusion:

The detection of ictal hyperperfusion on 1.5-T PASL might depend on the electrophysiological intensity of the epileptic ictus, which seemed to be more prominent on 1.5-T PASL than on 3-T pCASL. The 1.5-T PASL with dual PLDs showed the hemodynamics of ictal hyperperfusion in patients with RID and LPD. However, it may not be visualized in patients with extremely low amplitude RID or RDA (frequencies <2.5 Hz).

DOI： 10.25259/sni_841_2021

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その他リンク： http://surgicalneurologyint.com/surgicalint-articles/implications-and-limitations-of-magnetic-resonance-perfusion-imaging-with-1-5-tesla-pulsed-arterial-spin-labeling-in-detecting-ictal-hyperperfusion-during-non-convulsive-status-epileptics/

記述言語：その他   掲載種別：研究論文（学術雑誌）   出版者・発行元：Surgical Neurology International  

Background:

There is scarce evidence regarding focal resection surgery for super-refractory status epilepticus (SRSE), which is resistant to general anesthetic treatment over 24 h. We report two patients with SRSE, in whom good seizure outcomes were obtained following focal resection surgery.

Case Description:

Patient 1: A 58-year-old man who underwent left anterior temporal lobectomy with hippocampectomy at the age of 38 years after being diagnosed left medial temporal lobe epilepsy. After 19 years of surgery with no epileptic attacks, the patient developed SRSE. Electroencephalogram (EEG) demonstrated persistence of lateralized periodic discharges in the left frontotemporal region. On the 20^th day after SRSE onset, resection of the frontal lobe and temporal lobe posterior to the resection cavity was performed. Patient 2: A 62-year-old man underwent craniotomy for anaplastic astrocytoma in the left frontal lobe at the age of 34 years. Since the age of 60 years, he developed SRSE 3 times over 1 and 1/12 years. On EEG, repeated ictal discharges were observed at the medial part of the left frontal region during the three SRSEs. Corresponding to the ictal EEG findings, high signals on diffusion-weighted magnetic resonance images and focal hypermetabolism on fluorodeoxyglucose-positron emission tomography were observed around the supplementary motor area, medial to the resection cavity. Resection surgery of the area was performed during the interictal period.

Conclusion:

Good seizure outcome was obtained in the two cases which provide additional support for the recent concept of focal resection surgery as an indication for SRSE.

DOI： 10.25259/sni_152_2022

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その他リンク： http://surgicalneurologyint.com/surgicalint-articles/good-seizure-outcome-after-focal-resection-surgery-for-super-refractory-status-epilepticus-report-of-two-cases/

記述言語：日本語  

記述言語：日本語   出版者・発行元：(一社)日本小児神経外科学会  

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記述言語：日本語   出版者・発行元：(一社)日本小児神経外科学会  

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記述言語：日本語   出版者・発行元：(一社)日本小児神経外科学会  

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記述言語：日本語   出版者・発行元：(公社)日本精神神経学会  

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記述言語：英語   掲載種別：研究論文（学術雑誌）   出版者・発行元：World Neurosurgery  

BACKGROUND: Controversies exist regarding the aggressive recurrence of glioblastoma after bevacizumab treatment. We analyzed the clinical impact of bevacizumab approval in Japan by evaluating the clinical course and relapse pattern in patients with glioblastoma. METHODS: We included 100 patients with IDH-wild-type glioblastoma from September 2006 to February 2018 in our institution. The patients were classified into the pre-bevacizumab (n = 51) and post-bevacizumab (n = 49) groups. Overall, progression-free, deterioration-free, and postprogression survivals were compared. We analyzed the relapse pattern of 72 patients, whose radiographic progressions were evaluated. RESULTS: Significant improvement in progression-free (pre-bevacizumab, 7.5 months; post-bevacizumab, 9.9 months; P = 0.0153) and deterioration-free (pre-bevacizumab, 8.5 months; post-bevacizumab, 13.8 months; P = 0.0046) survivals was seen. These survival prolongations were strongly correlated (r: 0.91, P < 0.0001). The nonenhancing tumor pattern was novel in the post-bevacizumab era (5 of 33). The presence of a nonenhancing tumor did not indicate poor postprogression survival (hazard ratio: 0.82 [0.26-2.62], P = 0.7377). The rate of early focal recurrence was significantly lower (P = 0.0155) in the post-bevacizumab (4 of 33) than in the pre-bevacizumab (18 of 39) era. There was a significant decrease in early focal recurrence after approval of bevacizumab in patients with unresectable tumors (P = 0.0110). The treatment era was significantly correlated with a decreased rate of early focal recurrence (P = 0.0021, univariate analysis; P = 0.0144, multivariate analysis). CONCLUSIONS: Approval of first-line bevacizumab in Japan for unresectable tumors may prevent early progression and clinical deterioration of glioblastoma without worsening the clinical course after relapse.

DOI： 10.1016/j.wneu.2021.12.075

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記述言語：日本語  

記述言語：英語   掲載種別：研究論文（学術雑誌）   出版者・発行元：Journal of Neurosurgery: Case Lessons  

BACKGROUND: Cerebrovascular events and infection are among the most common complications of left ventricular assist device (LVAD) therapy. The authors reported on a patient with an infectious intracranial aneurysm (IIA) associated with LVAD infection that was successfully occluded by endovascular therapy. OBSERVATIONS: A 37-year-old man with severe heart failure received an implantable LVAD. He was diagnosed with candidemia due to driveline infection 44 months after LVAD implantation, and empirical antibiotic therapy was started. After 4 days of antibiotic treatment, the patient experienced sudden dizziness. Computed tomography (CT) revealed subarachnoid hemorrhage in the right frontal lobe, and CT angiography revealed multiple aneurysms in the peripheral lesion of the anterior cerebral artery (ACA) and middle cerebral artery. Two weeks and 4 days after the first bleeding, aneurysms on the ACA reruptured. Each aneurysm was treated with endovascular embolization using n-butyl cyanoacrylate. Subsequently, the patient had no rebleeding of IIAs. The LVAD was replaced, and bloodstream infection was controlled. He received a heart transplant and was independent 2 years after the heart transplant. LESSONS: LVAD-associated IIAs have high mortality and an increased risk of surgical complications. However, endovascular obliteration may be safe and thus improve prognosis.

DOI： 10.3171/CASE21559

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記述言語：英語   出版者・発行元：Pathology International  

DOI： 10.1111/pin.13197

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記述言語：日本語   出版者・発行元：(一社)日本病理学会  

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記述言語：英語   出版者・発行元：Neuropathology  

The mutation p.K27M in H3F3A (H3 K27M mutation) is mainly detected in diffuse midline glioma. However, recent studies have demonstrated that H3 K27M mutation could also be observed in a subset of gangliogliomas. Importantly, most H3 K27-mutated ganglioglioma cases also harbor BRAF V600E mutation. Herein, we report a rare case of H3 K27M-mutated ganglioglioma grade 3 without BRAF mutation arising in the medial temporal lobe in an elderly man. A small biopsy specimen was sampled. The pathological diagnosis was diffuse astrocytoma. The tumor progressed gradually during an 18-month follow-up period. Gadolinium enhancement on magnetic resonance imaging was noted 36 months after the biopsy. The patient was referred to a hospital for tumor resection. Histological analysis of resected specimens led to a diagnosis of ganglioglioma grade 3 with H3 K27M mutation. The patient underwent concurrent temozolomide chemotherapy with radiotherapy. Although the patient's condition deteriorated after chemotherapy due to disease progression, he survived for more than 23 months after tumor resection. We present this rare case and discuss the involvement of H3 K27M mutation in ganglioglioma grade 3.

DOI： 10.1111/neup.12793

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記述言語：その他   掲載種別：研究論文（学術雑誌）   出版者・発行元：Surgical Neurology International  

Background:

A retained medullary cord (RMC) is a relatively newly defined entity of closed spinal dysraphism that is thought to originate from regression failure of the medullary cord during secondary neurulation. A congenital dermal sinus (CDS) may provide a pathway for intraspinal infections such as repeated meningitis. Intramedullary abscesses are the rarest but most serious complication of a CDS.

Case Description:

We treated a female infant with an intramedullary abscess in the thoracolumbar region, which was caused by infection of the CDS. Surgery revealed that the cord-like structure (C-LS) started from the cord with the intramedullary abscess, extended to the dural cul-de-sac, and further continued to the CDS tract and skin dimple. The boundary between the functional cord and the non-functional CL-S was electrophysiologically identified, and the entire length of the C-LS (the RMC) with an infected dermoid cyst was resected. As a result, the abscess cavity was opened and thorough irrigation and drainage of the pus could be performed. Histopathological examination of the C-LS revealed an infected dermoid cyst and abscess cavity with keratin debris in the fibrocollagenous tissue. The abscess cavity had a central canal-like ependymal lined lumen (CCLELL), with surrounding glial fibrillary acidic protein (GFAP)-immunopositive neuroglial tissues.

Conclusion:

We demonstrated that the transmission of an infection through the RMC was involved in the development of the intramedullary abscess. A good postoperative outcome was obtained because a terminal ventriculostomy for pus drainage could be achieved by excising the nonfunctional RMC.

DOI： 10.25259/sni_1197_2021

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その他リンク： http://surgicalneurologyint.com/surgicalint-articles/intramedullary-abscess-at-thoracolumbar-region-transmitted-from-infected-dermal-sinus-and-dermoid-through-retained-medullary-cord/

記述言語：英語   掲載種別：研究論文（学術雑誌）   出版者・発行元：Surgical Neurology International  

Background:

Long-term outcomes after surgical treatment of arachnoid cysts (ACs) have not been reported adequately. Impaired visual acuity is not a common symptom of shunt dependency syndrome due to cyst-peritoneal (CP) shunt malfunction for ACs. We report a case of CP shunt malfunction, who presented only impaired visual acuity as a symptom, long after the initial surgical treatment.

Case Description:

A 16-year-old boy was surgically treated for the left frontal AC with CP shunting at 2 years of age. Extension of the peritoneal shunt catheter was performed at 15 years of age. A year later, he started experiencing impairment of visual acuity without headaches, which worsened to bilateral light perception. The presence of bilateral optic atrophy was confirmed. The AC in the left frontal lobe had enlarged very slightly, with shortening of the intracystic catheter, and the cerebrospinal fluid pressure was elevated to 30 cmH2O. He was treated with lumboperitoneal shunting. The visual acuity showed limited improvement.

Conclusion:

The possibility of CP shunt malfunction and shunt dependency syndrome should be considered, even if the patient presented only impaired visual acuity and no significant changes in the size of the ACs are observed.

DOI： 10.25259/sni_1077_2021

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その他リンク： http://surgicalneurologyint.com/surgicalint-articles/impaired-visual-acuity-as-an-only-symptom-of-shunt-malfunction-long-time-after-initial-cyst-peritoneal-shunting-for-arachnoid-cyst-a-case-report/

記述言語：日本語  

記述言語：英語   掲載種別：研究論文（学術雑誌）   出版者・発行元：Neuro-Oncology  

BACKGROUND: CNS germ cell tumors (GCTs) predominantly develop in pediatric and young adult patients with variable responses to surgery, radiation, and chemotherapy. This study aimed to examine the complex and largely unknown pathogenesis of CNS GCTs. METHODS: We used a combined transcriptomic and methylomic approach in 84 cases and conducted an integrative analysis of the normal cells undergoing embryogenesis and testicular GCTs. RESULTS: Genome-wide transcriptome analysis in CNS GCTs indicated that germinoma had a transcriptomic profile representative of primitive cells during early embryogenesis with high meiosis/mitosis potentials, while non-germinomatous GCTs (NGGCTs) had differentiated phenotypes oriented toward tissue formation and organogenesis. Co-analysis with the transcriptome of human embryonic cells revealed that germinomas had expression profiles similar to those of primordial germ cells, while the expression profiles of NGGCTs were similar to those of embryonic stem cells. Some germinoma cases were characterized by extensive immune-cell infiltration and high expression of cancer-testis antigens. NGGCTs had significantly higher immune-cell infiltration, characterized by immune-suppression phenotype. CNS and testicular GCTs (TGCTs) had similar mutational profiles; TGCTs showed enhanced copy number alterations. Methylation analysis clustered germinoma/seminoma and non-germinoma/non-seminoma separately. Germinoma and seminoma were co-categorized based on the degree of the tumor microenvironment balance. CONCLUSIONS: These results suggested that the pathophysiology of GCTs was less dependent on their site of origin and more dependent on the state of differentiation as well as on the tumor microenvironment balance. This study revealed distinct biological properties of GCTs, which will hopefully lead to future treatment development.

DOI： 10.1093/neuonc/noac021

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DOI： 10.1161/str.53.suppl_1.TMP66

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記述言語：日本語   出版者・発行元：(株)日本臨床社  

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記述言語：英語   掲載種別：研究論文（学術雑誌）  

Understanding human genome alterations is necessary to optimize genome-based cancer therapeutics. However, some newly discovered mutations remain as variants of unknown significance (VUS). Here, the mutation c.1403A > G in exon 10 of the platelet-derived growth factor receptor-alpha (PDGFRA) gene, a VUS found in adult glioblastoma multiforme (GBM), was introduced in human embryonal kidney 293 T (HEK293T) cells using genome editing to investigate its potential oncogenic functions. Genome editing was performed using CRISPR/Cas9; the proliferation, drug sensitivity, and carcinogenic potential of genome-edited cells were investigated. We also investigated the mechanism underlying the observed phenotypes. Three GBM patients carrying the c.1403A > G mutation were studied to validate the in vitro results. The c.1403A > G mutation led to a splice variant (p.K455_N468delinsN) because of the generation of a 3'-acceptor splice site in exon 10. PDGFRA-mutated HEK293T cells exhibited a higher proliferative activity via PDGFRα and the cyclin-dependent kinase (CDK)4/CDK6-cyclin D1 signaling pathway in a ligand-independent manner. They showed higher sensitivity to multi-kinase, receptor tyrosine kinase, and CDK4/CDK6 inhibitors. Of the three GBM patients studied, two harbored the p.K455_N468delinsN splice variant. The splicing mutation c.1403A > G in PDGFRA is oncogenic in nature. Kinase inhibitors targeting PDGFRα and CDK4/CDK6 signaling should be evaluated for treating GBM patients harboring this mutation.

DOI： 10.1038/s41598-022-05391-9

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記述言語：その他   掲載種別：研究論文（学術雑誌）   出版者・発行元：Japanese Society on Surgery for Cerebral Stroke  

DOI： 10.2335/scs.50.307

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記述言語：その他   掲載種別：研究論文（学術雑誌）   出版者・発行元：Neuro-Oncology Advances  

Abstract

Background

Platelet-derived growth factor receptor alpha (PDGFRA) is the second most frequently mutated tyrosine kinase receptor in glioblastoma (GBM). However, the prognostic impact of PDGFRA amplification on GBM patients remains unclear. Herein, we evaluated this impact by retrospectively analyzing outcomes of patients with IDH wild-type GBM.

Methods

Using a custom-made oncopanel, we evaluated PDGFRA gain/amplification in 107 GBM samples harboring wild-type IDH, along with MGMT promoter (MGMTp) methylation status.

Results

We detected PDGFRA gain/amplification in 31 samples (29.0&#37;). PDGFRA gain/amplification predicted poor prognosis (P = .003). Compared to unamplified PDGFRA, PDGFRA gain/amplification in GBM was associated with higher patient age (P = .031), higher Ki-67 score (P = .019), and lower extent of surgical resection (P = .033). Unmethylated MGMTp also predicted poor prognosis (P = .005). As PDGFRA gain/amplification and unmethylated MGMTp were independent factors for poor prognosis in multivariate analyses, we grouped GBM cases based on PDGFRA and MGMTp status: poor (PDGFRA gain/amplification and unmethylated MGMTp), intermediate (PDGFRA gain/amplification or unmethylated MGMTp), and good (PDGFRA intact and methylated MGMTp) prognosis. The Kaplan-Meier survival analysis indicated that these groups significantly correlated with the OS of GBM patients (P < .001).

Conclusions

Here we report that PDGFRA gain/amplification is a predictor of poor prognosis in IDH wild-type GBM. Combining PDGFRA gain/amplification with MGMTp methylation status improves individual prognosis prediction in patients with IDH wild-type GBM.

DOI： 10.1093/noajnl/vdac097

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その他リンク： https://academic.oup.com/noa/article-pdf/4/1/vdac097/45178840/vdac097.pdf

記述言語：その他   掲載種別：研究論文（学術雑誌）   出版者・発行元：Biology Methods and Protocols  

Abstract

With the advent of new molecular diagnostic techniques, retrieving DNA from the formalin-fixed paraffin-embedded (FFPE) tissues has become an essential yet challenging step for efficient downstream processes. Owing to low quality and quantity of DNA retrieved from the FFPE sections, the process is often impractical and needs significant improvements. Here, we established an efficient method for the purification of DNA from FFPE specimens by optimizing incubation temperature, incubation time, and the concentration of a formalin scavenger tris(hydroxymethyl)aminomethane (Tris) for reverse-crosslinking. The optimized method, named “Highly concentrated Tris-mediated DNA extraction” (HiTE), yielded three times the DNA yield per tissue slice compared with a representative DNA extraction kit. Moreover, the use of HiTE-extracted DNA increased the yield of the sequencing library three times and accordingly yielded a log higher and more reproducible sequencing library compared with that obtained using the commonly used commercial kit. The sequencing library prepared from HiTE-extracted FFPE-DNA had longer inserts and produced reads that evenly covered the reference genome. Successful application of HiTE-extracted FFPE-DNA for whole-genome and targeted gene panel sequencing indicates its practical usability.

DOI： 10.1093/biomethods/bpac014

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その他リンク： https://academic.oup.com/biomethods/article-pdf/7/1/bpac014/45249530/bpac014.pdf

記述言語：英語  

DOI： 10.1016/j.jos.2021.12.014

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記述言語：英語   掲載種別：研究論文（学術雑誌）   出版者・発行元：MDPI AG  

Glioblastoma multiforme (GBM) is the most common and aggressive brain tumor. To identify the factors influencing the improvement of the activities of daily living (ADL) in newly diagnosed patients with GBM, we investigated the characteristics and variable factors and overall survival. A total of 105 patients with GBM were retrospectively analyzed and categorized into the following three groups according to the quartile of change of their Barthel index score from admission to discharge: deterioration (n = 25), no remarkable change (n = 55), and good recovery (n = 25). A statistical difference was observed in the pre-operative, intra-operative, post-operative, and rehabilitation-related factors between the deterioration and good recovery groups. Multiple regression analysis identified the following significant factors that may influence the improvement of ADL after surgery: the improvement of motor paralysis after surgery, mild fatigue during radio and chemotherapy, and length up to early walking training onset. The median overall survival was significantly different between the deterioration (10.6 months) and good recovery groups (18.9 months, p = 0.025). Our findings identified several factors that may be associated with post-operative functional improvement in patients with GBM. The inpatient rehabilitation during radio and chemotherapy may be encouraged without severe adverse events and can promote functional outcomes, which may contribute to the overall survival of newly diagnosed patients with GBM.

DOI： 10.3390/jcm11020417

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記述言語：英語   出版者・発行元：Clinical Biomechanics  

Background After total hip arthroplasty, dislocation can occur when a patient unexpectedly assumes internal/external limb positions, even during chair-rising, which is a frequently activity of daily life. Therefore, determining the target cup position to avoid impingement in unexpected limb positions using in vivo data of daily life activities is critical. Methods A computer simulation was performed on 21 total hip arthroplasty patients using patient-specific component placements and hip kinematics obtained during chair-rising analysis using image-matching techniques. The liner-to-neck distance and impingement were evaluated by simulating the change in internal/external rotation angle at maximum hip flexion/extension from 0 to 90°. The cutoff values of cup anteversion and combined anteversion at 60° of internal/external rotation were determined. Findings The anterior/posterior liner-to-neck distances were negatively correlated with internal/external rotation angles (r = −0.82 and −0.78, respectively) and decreased by 1.7 and 1.8 mm for every 15° increase, respectively. Three cases (14%) of anterior/posterior impingement were observed at 60° of internal/external rotation angle, respectively. The cutoff values for cup anteversion and combined anteversion to avoid impingement at 60° of internal/external rotation angle were 12°–25°/38°–62°, respectively. The stem anteversion, adjustable by cup anteversion to meet both the target cup anteversion and combined anteversion, was 13°–50°. Interpretation Simulated unintentional internal or external hip rotation, even during chair-rising, caused impingement and posed a dislocation risk. If the stem anteversion is excessively small or large in meeting the target combined anteversion, adjustments to stem anteversion could be recommended in addition to adjustments in cup anteversion.

DOI： 10.1016/j.clinbiomech.2021.105537

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記述言語：英語   出版者・発行元：(一社)日本てんかん学会  

7歳女児。2年前から視覚障害を伴う意識減損焦点発作があり、抗てんかん薬に抵抗性であった。MRIにて、右後頭部に腫瘍を認め、頭蓋外と頭蓋内の脳波(EEG)を同時に実施した。頭蓋内で14Hz/6Hz陽性棘波(14Hz/6Hz PS)と発作間欠期てんかん性放電(IED)の高周波振動(HFO)分析を実施した。この分析では、14Hz/6Hz PSは頭蓋外と頭蓋内の両者の脳波において同一波形だが異なる振幅で記録された。各頭蓋内IEDに対応する頭蓋外IEDは記録されなかった。頭蓋内14Hz/6Hz PSには重ね合わせでのHFOを認めなかったが、頭蓋内IEDには高いγ活性などの重ね合わせにて周波振動を認めた。発作領域と興奮域の一致を認めたため切除した。細胞学的検査にて、腫瘍は多形黄色星細胞腫であった。術後2年経過し、頭蓋外EEGにてIEDは消失したが、14Hz/6Hz PSは残存した。

記述言語：英語   出版者・発行元：Surgical Neurology International  

Background: Glioependymal cysts (GECs) are rare, benign congenital intracranial cysts that account for 1% of all intracranial cysts. Surgical interventions are required for patients with symptomatic GECs. However, the optimal treatment remains controversial, especially in infants. Here, we report a male infant case of GECs that successfully underwent minimally invasive combined neuroendoscopic cyst wall fenestration and cyst-peritoneal (CP) shunt. Case Description: The boy was delivered transvaginally at 38 weeks and 6 days of gestation with no neurological deficits. Magnetic resonance imaging (MRI) at birth revealed multiple cysts with smooth and rounded borders and a non-enhancing wall in the right parieto-occipital region. The size of the cyst had increased rapidly compared to that of the prenatal MRI, which was performed at 37 weeks and 2 days. On the day of birth, Ommaya cerebrospinal fluid (CSF) reservoir was placed into the largest outer cyst. The patient underwent intermittent CSF drainage; however, he experienced occasional vomiting. At 2 months, he underwent combined neuroendoscopic cyst wall fenestration and CP shunt through a small hole. The patient's postoperative course was uneventful and there was no recurrence of the cyst. The pathological diagnosis was GEC. Conclusion: Combined neuroendoscopic cyst wall fenestration and CP shunt are a minimally invasive and effective treatment for infants with GECs.

DOI： 10.25259/SNI_133_2022

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記述言語：英語   出版者・発行元：JAPAN EPILEPSY SOCIETY  

<p><i>Background</i>: It is generally accepted that 14 and 6 Hz-positive spikes (14/6 Hz PS) are normal variant electroencephalographic (EEG) patterns. Analysis of high frequency oscillations (HFOs) including fast oscillations (FOs) of extracranial EEG containing 14/6 Hz PS is difficult.</p><p><i>Case report</i>: We performed an HFO analysis of the intracranial 14/6 Hz PS and interictal epileptiform discharges (IEDs) in a patient with occipital lobe epilepsy, who underwent simultaneous extracranial and intracranial EEG recordings. The 14/6 Hz PS were recorded on both extracranial and intracranial EEGs with the same waveform but different amplitudes. In contrast, the extracranial IEDs corresponding to every intracranial IED were not recorded. Intracranial 14/6 Hz PS did not have superimposing HFOs, while the intracranial IEDs had superimposing FOs such as high γ activities.</p><p><i>Conclusion</i>: The finding that no HFOs were detected in intracranial 14/6 Hz PS further supports the notion that 14/6 Hz PS are not epileptogenic.</p>

DOI： 10.3805/eands.14.10

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記述言語：日本語   掲載種別：研究論文（学術雑誌）  

記述言語：日本語  

記述言語：英語   掲載種別：研究論文（学術雑誌）  

DOI： 10.1016/j.inat.2021.101299

記述言語：日本語  

記述言語：英語   掲載種別：研究論文（学術雑誌）  

DOI： 10.2176/nmc.st.2021-0254

記述言語：その他   掲載種別：研究論文（学術雑誌）  

DOI： 10.25259/sni_995_2021

記述言語：英語   掲載種別：研究論文（学術雑誌）   出版者・発行元：Clinical EEG and Neuroscience  

Objective: Previous reports on the simultaneous recording of electroencephalography (EEG) and electrocorticography (ECoG) have demonstrated that, in patients with temporal lobe epilepsy (TLE), ictal ECoG discharges with an amplitude as high as 1000 μV originating from the medial temporal lobe could not be recorded on EEG. In contrast, ictal EEG discharges were recorded after ictal ECoG discharges propagated to the lateral temporal lobe. Here, we report a case of TLE in which the ictal EEG discharges, corresponding to ictal ECoG discharges confined to the medial temporal lobe, were recorded. Case report: In the present case, ictal EEG discharges were hardly recognized when the amplitude of the ECoG discharges was less than 1500 μV. During the evolution and burst suppression phase, corresponding to highly synchronized ECoG discharges with amplitudes greater than 1500 to 2000 μV, rhythmic negative waves with the same frequency were clearly recorded both on the lateral temporal lobe and scalp. The amplitude of the lateral temporal ECoG was approximately one-tenth of that of the medial temporal ECoG. The amplitude of the scalp EEG was approximately one-tenth of that of the lateral temporal ECoG. Conclusions: Highly synchronized ictal ECoG discharges with high amplitude of greater than 1500 to 2000 μV in the medial temporal lobe could be recorded on the scalp as ictal EEG discharges via volume conduction.

DOI： 10.1177/15500594211062702

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Scopus

PubMed

記述言語：日本語  

記述言語：日本語  

記述言語：日本語  

記述言語：日本語  

記述言語：日本語  

記述言語：日本語  

記述言語：日本語  

記述言語：英語   掲載種別：研究論文（学術雑誌）  

DOI： 10.1016/j.wneu.2021.08.070

記述言語：英語   掲載種別：研究論文（学術雑誌）  

BACKGROUND: Spontaneous intracranial hypotension (SIH) is secondary to a cerebrospinal fluid leak at the spinal level without obvious causative events. Several signs on brain and cervical spine magnetic resonance (MR) imaging (MRI) have been associated with SIH but can be equivocal or negative. This retrospective study sought to identify characteristic SIH signs on thoracic spinal MRI. METHODS: Cranial and spinal MR images of 27 consecutive patients with classic SIH symptoms, who eventually received epidural autologous blood patches (EBPs), were analyzed. RESULTS: The most prevalent findings on T2-weighted MRI at the thoracic level were anterior shift of the spinal cord (96.3&#37;) and dorsal dura mater (81.5&#37;), probably caused by dural sac shrinkage. These dural sac shrinkage signs (DSSS) were frequently accompanied by cerebrospinal fluid collection in the posterior epidural space (77.8&#37;) and a prominent epidural venous plexus (77.8&#37;). These findings disappeared in all six patients who underwent post-EBP spinal MRI. Dural enhancement and brain sagging were minimum or absent on the cranial MR images of seven patients, although DSSS were obvious in these seven patients. For 23 patients with SIH and 28 healthy volunteers, a diagnostic test using thoracic MRI was performed by 13 experts to validate the usefulness of DSSS. The median sensitivity, specificity, positive-predictive value, negative-predictive value, and accuracy of the DSSS were high (range, 0.913-0.931). CONCLUSIONS: Detection of DSSS on thoracic MRI facilitates an SIH diagnosis without the use of invasive imaging modalities. The DSSS were positive even in patients in whom classic cranial MRI signs for SIH were equivocal or minimal.

DOI： 10.1007/s00701-021-04933-w

記述言語：英語  

DOI： 10.2176/nmccrj.cr.2021-0103

記述言語：日本語  

記述言語：日本語  

記述言語：英語   掲載種別：研究論文（学術雑誌）  

DOI： 10.1016/j.clineuro.2021.106922

記述言語：英語   掲載種別：研究論文（学術雑誌）  

DOI： 10.1007/s11060-021-03812-9

記述言語：英語  

記述言語：日本語  

70歳代、女性。近医にて副腎不全の精査中に鞍上部腫瘍を発見され、当科へ紹介となった。画像所見より下垂体卒中と診断され、ステロイド補充後に副腎不全は軽快したが、初発から2ヵ月後に急速な視力・視野障害、電解質異常、意識障害が出現した。患者は関節リウマチの治療中で、医原性の免疫不全状態であることを踏まえ、治療は下垂体炎や膿瘍など炎症・感染性疾患を鑑別して緊急で経蝶形骨洞的生検術が行われた。その結果、病理組織所見および服薬歴より本症例はメソトレキセート(MTX)関連リンパ増殖性疾患と診断された。対処としてMTX休薬とステロイド投与が行われるも効果がなく、全身状態不良のため緩和治療に移行した。

記述言語：日本語  

当院で手術を行った下垂体卒中32例(男性16例、女性16例、平均年齢51.7±18.5歳)の画像所見と臨床経過について検討した。その結果、術前症状は頭痛が71.9&#37;と最多で、病理診断は非機能性下垂体腺腫が71.9&#37;と最も多かった。頭部CTにおけるトルコ鞍内の高吸収域は50&#37;にみられ、MRI T1強調像高信号域は56.3&#37;、鏡面像は28.1&#37;、副鼻腔粘膜肥厚は34.3&#37;で認められた。また、術中所見で血腫は62.5&#37;で認められた。尚、退院時ホルモン補充の要否と上記画像所見、あるいは術中所見との間に有意な関連は認められなかったが、頭痛発症例ではホルモン補充を要する傾向があった。

記述言語：日本語  

術後残存腫瘍、再発腫瘍に対してガンマナイフ療法を行った下垂体腺腫40例を対象として、その効果と安全性について検討した。非機能性下垂体腺腫28例の照射線量中央値は単回照射15Gy、分割照射27.5-30Gyで、経過中の腫瘍制御率は100&#37;であり、照射後新たにホルモン補充を要した3例のうち1例は照射半年後に副腎不全に陥った。機能性下垂体腺腫は先端巨大症11例、Cushing病1例で、照射線量中央値は25Gyであり、先端巨大症の腫瘍制御率は100&#37;で、照射後8例でIGF-1が正常化したが、Cushing病は難治性で再手術、再照射を要した。また、機能性下垂体腺腫では内頸動脈狭窄3例と動眼神経麻痺1例を認めた。下垂体腺腫に対するガンマナイフ療法の有効性は明らかであったが、機能性下垂体腺腫では治療適応や照射線量、照射方法を再検討する必要がある。

記述言語：英語  

記述言語：英語   掲載種別：研究論文（学術雑誌）  

DOI： 10.1186/s40792-021-01298-1

記述言語：英語   掲載種別：研究論文（学術雑誌）  

DOI： 10.3390/ijms22189941

記述言語：英語   掲載種別：研究論文（学術雑誌）  

DOI： 10.3389/fphar.2021.699026

記述言語：英語  

Behçet's disease (BD) is a rare chronic inflammatory disease associated with systemic vasculitis. Involvement of the nervous system in BD is called neuro-BD (NBD). Epilepsy related to NBD is uncommon but responds well to anti-epileptic drugs. We present a case of NBD with drug-resistant mesial temporal lobe epilepsy (MTLE) due to hippocampal sclerosis (HS). The patient presented with headache, dizziness, disorientation, and generalized seizures. Magnetic resonance imaging (MRI) identified pontine lesions. Chronic inflammation was suspected, and steroid pulse therapy improved his symptoms. He relapsed 1 year after onset and was diagnosed with NBD. MRI revealed bilateral mesial temporal lesions, with the right being edematous and the left atrophic. NBD was controlled by steroid and immunosuppressive medication. Three years after the onset of NBD, the patient suffered MTLE, and MRI suggested left hippocampal atrophy. His seizures became drug-resistant and surgical therapy was considered 12 years after NBD onset. Pre-surgical MRI clearly showed left HS. After evaluations, the patient had left anterior temporal lobectomy (ATL) 13 years after NBD onset under stable NBD. The patient was seizure-free for > 2 years after surgery. Surgery will be an effective treatment for drug-resistant MTLE with HS even in patients with NBD, of course the effects of surgical intervention should be considered.

DOI： 10.2176/nmccrj.cr.2020-0218

記述言語：その他   掲載種別：研究論文（学術雑誌）  

DOI： 10.2176/nmc.rc.2020-0339

記述言語：英語   掲載種別：研究論文（学術雑誌）  

DOI： 10.1093/neuonc/noab015

記述言語：英語   掲載種別：研究論文（学術雑誌）  

DOI： 10.1016/j.jos.2020.04.009

記述言語：日本語  

記述言語：日本語  

記述言語：日本語  

記述言語：日本語  

記述言語：英語   掲載種別：研究論文（学術雑誌）  

DOI： 10.1007/s10147-021-01929-5

記述言語：英語   掲載種別：研究論文（学術雑誌）  

DOI： 10.1002/cam4.3860

記述言語：英語  

DOI： 10.2176/nmccrj.cr.2020-0137

記述言語：英語   掲載種別：研究論文（学術雑誌）  

DOI： 10.1515/iss-2019-1004

記述言語：日本語  

記述言語：英語   掲載種別：研究論文（学術雑誌）  

DOI： 10.1093/neuonc/noaa199

記述言語：英語   掲載種別：研究論文（学術雑誌）  

DOI： 10.1097/SCS.0000000000007442

記述言語：その他   掲載種別：研究論文（学術雑誌）  

DOI： 10.1093/noajnl/vdab086

記述言語：英語  

DOI： 10.1007/s11033-020-06061-7

記述言語：日本語   掲載種別：研究論文（学術雑誌）  

記述言語：英語   掲載種別：研究論文（学術雑誌）  

DOI： 10.1016/j.wneu.2020.08.226

記述言語：日本語   掲載種別：研究論文（学術雑誌）  

記述言語：英語   掲載種別：研究論文（学術雑誌）  

DOI： 10.1016/j.wneu.2020.07.213

記述言語：英語   掲載種別：研究論文（学術雑誌）  

DOI： 10.1111/cas.14597

記述言語：その他   掲載種別：研究論文（学術雑誌）  

DOI： 10.25259/sni_531_2020

記述言語：日本語   掲載種別：研究論文（学術雑誌）  

記述言語：その他   掲載種別：研究論文（学術雑誌）  

DOI： 10.25259/sni_423_2020

記述言語：英語   掲載種別：研究論文（学術雑誌）  

DOI： 10.1038/s41598-020-73116-x

記述言語：日本語   掲載種別：研究論文（学術雑誌）  

記述言語：英語   掲載種別：研究論文（学術雑誌）  

DOI： 10.1172/JCI136745

記述言語：英語   掲載種別：研究論文（学術雑誌）  

DOI： 10.1007/s00381-019-04489-2

記述言語：英語   掲載種別：研究論文（学術雑誌）  

DOI： 10.25259/sni_97_2020

記述言語：日本語   掲載種別：研究論文（学術雑誌）  

記述言語：英語   掲載種別：研究論文（学術雑誌）  

DOI： 10.1007/s11060-020-03505-9

記述言語：日本語   掲載種別：研究論文（学術雑誌）  

記述言語：その他   掲載種別：研究論文（学術雑誌）  

Background:

Accurate diagnosis of brain tumor is crucial for adequate surgical strategy. Our institution follows a comprehensive preoperative evaluation based on clinical and imaging information.

Methods:

To assess the precision of preoperative diagnosis, we compared the “top three list” of differential diagnosis (the first, second, and third diagnoses according to the WHO 2007 classification including grading) of 1061 brain tumors, prospectively and consecutively registered in preoperative case conferences from 2010 to the end of 2017, with postoperative pathology reports.

Results:

The correct diagnosis rate (sensitivity) of the first diagnosis was 75.8&#37; in total. The sensitivity of the first diagnosis was high (84–94&#37;) in hypothalamic-pituitary and extra-axial tumors, 67–75&#37; in intra-axial tumors, and relatively low (29–42&#37;) in intraventricular and pineal region tumors. Among major three intra-axial tumors, the sensitivity was highest in brain metastasis: 83.8&#37; followed by malignant lymphoma: 81.4&#37; and glioblastoma multiforme: 73.1&#37;. Sensitivity was generally low (≦60&#37;) in other gliomas. These sensitivities generally improved when the second and third diagnoses were included; 86.3&#37; in total. Positive predictive value (PPV) was 76.9&#37; in total. All the three preoperative diagnoses were incorrect in 3.4&#37; (36/1061) of cases even when broader brain tumor classification was applied.

Conclusion:

Our institutional experience on precision of preoperative diagnosis appeared around 75&#37; of sensitivity and PPV for brain tumor. Sensitivity improved by 10&#37; when the second and third diagnoses were included. Neurosurgeons should be aware of these features of precision in preoperative differential diagnosis of a brain tumor for better surgical strategy and to adequately inform the patients.

DOI： 10.25259/sni_5_2020

記述言語：日本語   掲載種別：研究論文（学術雑誌）  

記述言語：その他   掲載種別：研究論文（学術雑誌）  

DOI： 10.1111/nan.12570

記述言語：英語   掲載種別：研究論文（学術雑誌）  

DOI： 10.1007/s11060-019-03339-0

記述言語：日本語   掲載種別：研究論文（学術雑誌）  

記述言語：英語   掲載種別：研究論文（学術雑誌）  

記述言語：英語  

DOI： 10.2176/nmccrj.cr.2018-0302

記述言語：日本語   掲載種別：研究論文（学術雑誌）  

記述言語：英語   掲載種別：研究論文（学術雑誌）  

DOI： 10.1016/j.clineuro.2019.105556

記述言語：その他   掲載種別：研究論文（学術雑誌）  

DOI： 10.1093/neuonc/noz139

記述言語：英語   掲載種別：研究論文（学術雑誌）  

DOI： 10.3390/ijms20246355

記述言語：その他   掲載種別：研究論文（学術雑誌）  

Correlation between prognosis of glioblastoma and choline/N-acetyl aspartate ratio in MR spectroscopy

DOI： 10.1016/j.inat.2019.100498

記述言語：日本語   掲載種別：研究論文（学術雑誌）  

記述言語：日本語   掲載種別：研究論文（学術雑誌）  

記述言語：英語   掲載種別：研究論文（学術雑誌）  

DOI： 10.1016/j.wneu.2019.07.179

記述言語：日本語   掲載種別：研究論文（学術雑誌）  

記述言語：英語   掲載種別：研究論文（学術雑誌）  

DOI： 10.1016/j.wneu.2019.06.021

記述言語：英語   掲載種別：研究論文（学術雑誌）  

DOI： 10.1016/j.wneu.2019.07.069

記述言語：日本語   掲載種別：研究論文（学術雑誌）  

記述言語：日本語   掲載種別：研究論文（学術雑誌）  

記述言語：日本語   掲載種別：研究論文（学術雑誌）  

記述言語：日本語  

当施設で2001～2017年に初回治療を行った初発グリオーマ例のうち、WHO2016分類で"diffuse astrocytic and oligodendroglial tumor"に含まれる腫瘍として分子診断された231例を対象に検討した。方法は、isocitrate dehydrogenase(IDH)-mutationの有無とdrive mutationの有無によって、IDH-wild type without driver mutation群(115例)とIDH-mutant群(8例)およびIDH-wild type(H3-G34R mutant)群(3例)、wild type(BRAF V600E mutant)群(2例)の4群に分け、画像所見を比較した。結果、Gd造影T1WIにおいてwild type without driver mutation群の大半がリング状増強を示したのに対し、mutant群でリング状増強を示した症例は少なかった。また、wild type(H3-G34R mutant)群では3例ともリング状増強を示さず、石灰化を示したものが1例(33%)あった。wild type(BRAF V600E mutant)群の2例中1例はリング状増強を示し、もう1例はリング状でない増強と石灰化を示した。

記述言語：日本語   掲載種別：研究論文（学術雑誌）  

記述言語：英語   掲載種別：研究論文（学術雑誌）  

DOI： 10.1093/neuros/nyy569

記述言語：日本語   掲載種別：研究論文（学術雑誌）  

記述言語：その他   掲載種別：研究論文（学術雑誌）  

DOI： 10.1111/nan.12570

記述言語：その他   掲載種別：研究論文（学術雑誌）  

DOI： 10.1016/j.diii.2019.02.010

記述言語：日本語   掲載種別：研究論文（学術雑誌）  

DOI： 10.11477/mf.1436203974

記述言語：その他   掲載種別：研究論文（学術雑誌）  

DOI： 10.5797/jnet.oa.2019-0073