頭蓋底脊索腫、軟骨肉腫の分子生物学的解析と新しい鑑別方法の構築

Material type: 文書・図像類

Author: 北村, 洋平

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Publication date: 2015

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Note (General)：: type:text頭蓋底部に生じる軟骨肉腫と脊索腫とは画像所見や病理組織所見が非常に似ているため, 鑑別が困難な事がしばしばあります。今回私たちは頭蓋底軟骨肉腫について染色体コピー数異常, isocitrate dehydrogenase(IDH)遺伝子突然変異, brachyuryタンパク質の発...

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科研費研究者番号 : 30445382

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Material Type: 文書・図像類
Title: 頭蓋底脊索腫、軟骨肉腫の分子生物学的解析と新しい鑑別方法の構築
Author/Editor: 北村, 洋平
Author Heading: 北村, 洋平
Publication Date: 2015
Publication Date (W3CDTF): 2015
Alternative Title: トウガイテイセキサクシュ, ナンコツニクシュノブンシセイブツガクテキカイセキトアタラシイカンベツホウホウノコウチク
Togaitei sekisakushu, nankotsu nikushu no bunshi seibutsugakuteki kaiseki to atarashii kanbetsu hoho no kochiku
Genetic characterization of skull base chondrosarcoma and chordoma
Periodical title: 科学研究費補助金研究成果報告書
Text Language Code: jpn
eng
Subject Heading: 頭蓋底軟骨肉腫,脊索腫,IDH1/2,brachyuryタンパク質
Target Audience: 一般
Note (General): type:text
頭蓋底部に生じる軟骨肉腫と脊索腫とは画像所見や病理組織所見が非常に似ているため, 鑑別が困難な事がしばしばあります。今回私たちは頭蓋底軟骨肉腫について染色体コピー数異常, isocitrate dehydrogenase(IDH)遺伝子突然変異, brachyuryタンパク質の発現を調べ, 脊索腫のそれらと比較をしました。その結果, 軟骨肉腫において高頻度でIDH1遺伝子の突然変異を認めたの対し, 脊索腫では認めませんでした。また脊索腫で多く見られるbrachyuryタンパク質の発現は軟骨肉腫では認めませんでした。今回の結果から, これらの検査が鑑別において非常に有用であると考えられました。 Although chondrosarcomas rarely arise in the skull base, chondrosarcomas and chordomas are the two major malignant bone neoplasms occurring at this location. The distinction of these two tumors is important, but it is occasionally problematic because of radiological and histological overlap. We analyzed seven skull base chondrosarcoma specimens for chromosomal copy number alterations (CNAs), isocitrate dehydrogenase (IDH) 1/2 mutations and brachyury expression. We detected CNAs in six of the seven cases, including chromosomal gains of 8q21.1, 19. Mutation of IDH1 was found with a high frequency, of which R132S was most frequently mutated. Immunohistochemical staining for brachyury was negative in all cases. To the best of our knowledge, this is the first whole-genome study of an SBSC case series. Our findings suggest that these tumors are molecularly consistent with a subset of conventional central chondrosarcomas and different from skull base chordomas.
研究種目 : 若手研究(B) 研究期間 : 2014～2015 課題番号 : 26861166 研究分野 : 脳神経外科
Access Restrictions: 限定公開
Related Material: 科研費研究者番号 : 30445382
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Original Data Provider (Database): 慶應義塾大学 : 慶應義塾大学学術情報リポジトリ