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医学部 附属病院 脳神経外科 |
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Matsumoto F., Yokogami K., Yamada A., Moritake H., Watanabe T., Yamashita S., Sato Y., Takeshima H.
Human Cell 37 ( 2 ) 523 - 530 2024年3月
記述言語：英語 掲載種別：研究論文（学術雑誌） 出版者・発行元：Human Cell
Atypical teratoid/rhabdoid (AT/RT) is a rare and highly malignant tumor of the central nervous system (CNS). It is most commonly found in children less than 5 years of age and is associated with inactivation of loss of function of SMARCB1/INI1. An experimental model for AT/RT is necessary to develop new and effective therapies. We established a patient-derived new cell line (MZ611ATRT), which showed loss of BAF-47. MZ611ATRT genetically features somatic heterozygous deletion of SMARCB1 and single nucleotide deletion of the residual allele, exon 5 ([c.541delC]), resulting in a stop codon at codon 954 by frameshift. We assessed the RNA-sequencing data of the other two AT/RT cell lines with forced expression of SMARCB1 available from public databases. We found SMARCB1 overexpression significantly down-regulates the expression of a group of enzymes related to cholesterol biosynthesis. Simvastatin was highly sensitive against MZ611ATRT cells and induced apoptosis (IC50 was 3.098 µM for MZ611ATRT, 41.88uM for U-87 MG, 23.34uM for IOMM-Lee, and 18.12uM for U-251 MG.). Pathways involved in cholesterol biosynthesis may be new targets for adjuvant therapy of AT/RT.
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Ogasawara N., Yamashita S., Yamasaki K., Kawano T., Kawano T., Muta J., Matsumoto F., Watanabe T., Ohta H., Yokogami K., Fukushima T., Sato Y., Takeshima H.
Brain Tumor Pathology 40 ( 4 ) 222 - 229 2023年10月
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
Malignant peripheral nerve sheath tumors (MPNSTs) arising from the trigeminal nerves are extremely rare (only 45 cases, including the present case, have been published) and have been reported to develop de novo from the peripheral nerve sheath and are not transformed from a schwannoma or neurofibroma. Here, we report a case of MPNSTs of the trigeminal nerve caused by the malignant transformation of a trigeminal schwannoma, with a particular focus on genetic considerations. After undergoing a near-total resection of a histologically typical benign schwannoma, the patient presented with regrowth of the tumor 10 years after the primary excision. Histopathologic and immunochemical examinations confirmed the recurrent tumor to be an MPNST. Comprehensive genomic analyses (FoundationOne panel-based gene assay) showed that only the recurrent MPNST sample, not the initial diagnosis of schwannoma, harbored genetic mutations, including NF1-p.R2637* and TP53-p.Y234H, candidate gene mutations associated with malignant transformation. Moreover, the results of reverse transcription polymerase chain reaction showed that the fusion of SH3PXD2A and HTRA1, which has been reported as one of the responsible genetic aberrations of schwannoma, was detected in the recurrent tumor. Taken together, we could illustrate the accumulation process of gene abnormalities for developing MPNSTs from normal cells via schwannomas.
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Rare solitary pituitary metastasis of maxillary ameloblastic carcinoma: illustrative case 査読あり
Arikawa S., Watanabe T., Yamaguchi H., Sato Y., Matsumoto F., Yokogami K., Takeshima H.
Journal of Neurosurgery: Case Lessons 6 ( 10 ) 2023年9月
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 Ameloblastic carcinoma (AC) is a rare odontogenic carcinoma with histological features resembling ameloblastoma. Metastasis to distant organs and direct expansion into the skull base structures are associated with a poor clinical outcome. This rare case of AC metastasis to the pituitary gland presented without local recurrence at the primary focus of the maxilla. OBSERVATIONS A 47-year-old man had a 2-year history of AC in the right maxilla. Computed tomography for his regular checkup incidentally demonstrated pituitary tumor, rapidly growing over 2 months. He presented with the recent onset of panhypopituitarism and visual field defect. Magnetic resonance imaging showed a large, irregularly shaped intrasellar and suprasellar lesion with chiasmal compression. Endoscopic endonasal transsphenoidal surgery was performed for decompression of the optic apparatus to avoid intracranial spread. Histopathology confirmed metastatic AC, and a genetic panel test confirmed BRAF V600E mutation. Stereotactic radiotherapy (SRT) with the CyberKnife system was administered to the residual tumor. Remarkable tumor shrinkage was obtained, and panhypopituitarism was resolved 12 months later. LESSONS A multidisciplinary treatment strategy including maximal safe resection to avoid dissemination in combination with SRT may be crucial for local control with the preservation of pituitary and visual functions in patients with solitary pituitary metastatic AC.
DOI： 10.3171/CASE23264
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Nagayasu M.A., Fukushima T., Matsumoto F., Takeshima H., Sato Y., Kataoka H.
Journal of Medical Case Reports 16 ( 1 ) 312 2022年12月
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 Medical Case Reports
Background: Dura-attached supratentorial extra-axial ependymoma is a very rare type of tumor, with only nine reported cases. Preoperative diagnosis of dura-attached supratentorial extra-axial ependymoma is difficult and often radiologically misdiagnosed as a meningioma. We report a case of dura-attached supratentorial extra-axial ependymoma that was misdiagnosed using intraoperative histological and cytological examinations. Case presentation: A 26-year-old Japanese man with headache and nausea was referred to our medical facility. Magnetic resonance imaging revealed a cystic mass of 70 × 53 × 57 mm in the left temporoparietal lobe. A peritumoral band with hyperintensity on T2-weighted imaging was observed at the periphery of the lesion, suggesting an extra-axial lesion with no apparent connection to the ventricle. A dural tail sign was also noted on the gadolinium-enhanced T1-weighted image. Preoperative clinical diagnosis was meningioma. Proliferated tumor cells in sheets with intermingled branching vessels were observed in the frozen tissue. Perivascular rosettes were inconspicuous, and the tumor cells had rhabdoid cytoplasm. The tumor was intraoperatively diagnosed as a meningioma, suspected to be a rhabdoid meningioma. Perivascular rosettes were evident in the formalin-fixed paraffin-embedded tissues, suggesting ependymoma. The tumor cells had eosinophilic cytoplasm without a rhabdoid appearance. Anaplastic features, such as high tumor cellularity, increased mitotic activity, microvascular proliferation, and necrosis, were observed. Ependymal differentiation was confirmed on the basis of ultrastructural analysis. Molecular analysis detected C11orf95-RELA fusion gene. The final diagnosis was RELA fusion-positive ependymoma, World Health Organization grade III. Conclusion: Owing to its unusual location, dura-attached supratentorial extra-axial ependymomas are frequently misdiagnosed as meningiomas. Neuropathologists should take great precaution in intraoperatively diagnosing this rare subtype of ependymoma to avoid misdiagnosis of the lesion as other common dura-attached tumors.
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渡邉 孝, 松元 文孝, 山下 真治, 大田 元, 横上 聖貴, 竹島 秀雄
日本内分泌学会雑誌 98 ( S.HPT ) 28 - 30 2022年8月
講演・口頭発表等 【 表示 ／ 非表示 】
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悪性神経膠腫の増殖血管における上皮間転換の検出．
松元文孝
第36回日本脳腫瘍学会学術集会
開催年月日： 2018年12月2日 - 2018年12月4日
記述言語：日本語 会議種別：口頭発表（一般）
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Detection of TERT promoter mutation in proliferated Vascular cells of malignant glioma.
Matsumoto F
The 15th Kyushyu and Yong-Honam Neurosurgical Joint Meeting
開催年月日： 2018年11月
記述言語：英語 会議種別：口頭発表（一般）
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内視鏡手術前のMRI, CT合成3Dイメージ作成の有効性について．
松元文孝、田村充、武石剛、竹島秀雄
第25回日本神経内視鏡学会
開催年月日： 2018年10月26日 - 2018年10月27日
記述言語：日本語 会議種別：口頭発表（一般）
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宮崎県における10年間の原発性脳腫瘍の疫学調査．
松元文孝
日本脳神経外科学会第77回学術総会
開催年月日： 2018年10月10日 - 2018年10月12日
記述言語：日本語 会議種別：口頭発表（一般）
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DIPGの憎悪に放射線再照射を併用した一例
松元文孝
第46回日本小児脳神経外科学会
開催年月日： 2018年6月8日 - 2018年6月9日
記述言語：英語 会議種別：口頭発表（一般）