2018 Fiscal Year Final Research Report
Exome analysis of glioma malignant transformation mutation and development of differentiation method by blood secretory vesicle analysis
| Project/Area Number |
15K10329
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Neurosurgery
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| Research Institution | Hamamatsu University School of Medicine |
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Principal Investigator |
Minoshima Shinsei 浜松医科大学, 光尖端医学教育研究センター, 教授 (90181966)
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| Co-Investigator(Kenkyū-buntansha) |
大坪 正史 浜松医科大学, 光尖端医学教育研究センター, 助教 (10327653)
足立 直樹 浜松医科大学, 光尖端医学教育研究センター, 技術職員 (70300853)
徳山 勤 浜松医科大学, 医学部附属病院, 講師 (90313957)
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| Project Period (FY) |
2015-04-01 – 2019-03-31
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| Keywords | 低悪性度グリオーマ / グリオブラストーマ / 悪性転化 |
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| Outline of Final Research Achievements |
This study aimed to find out the genetic changes associated with malignant transformation of low-grade glioma. The main analysis target was a case in which malignancy was transformed with a favorable prognosis marker IDH1 mutation. Whole exome sequencing was performed on the pre / post malignant tumor samples and blood of this case. Since it was assumed that the tumor homogeneity of the sample was low by the preliminary examination, it was analyzed by the high power FPVD method, and 64 gene 94 mutations were extracted based on non-synonymous base change / post malignant transformation sample specific / COSMIC cancer mutation information as index. Among high-frequency mutation genes of brain tumors, mutations of TP53 and PDGFRA were found in samples after malignant transformation. We also conducted basic research on genes and proteins contained in blood secretory membrane vesicles.
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| Free Research Field |
ゲノム医科学・遺伝学
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| Academic Significance and Societal Importance of the Research Achievements |
収集した脳腫瘍検体および血液検体について、IDH1,2変異を事前スクリーニングした。全100検体のうち、23検体にIDH1遺伝子R132変異を、1検体にIDH2遺伝子R172変異を見出した。今回の解析では、既に悪性転化を起こしている検体のみを主解析対象としたが、十分な知見を得るには更に多くの同様症例の解析が必要となる。残りの検体についても、今後の転化の状況により、解析を行う必要が生じる。悪性転化のみならず脳腫瘍のマーカー変異についての血液中の分泌膜小胞からの同定がなれば、侵襲度の低い鑑別検査法の確立に役立つ。
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