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2019 Fiscal Year Final Research Report

Analysis of interregional differences in somatic genetic landscape and prognosis in glioblastoma

Research Project

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Project/Area Number 17K16646
Research Category

Grant-in-Aid for Young Scientists (B)

Allocation TypeMulti-year Fund
Research Field Neurosurgery
Research InstitutionOsaka University (2017, 2019)
Kobe University (2018)

Principal Investigator

Umehara Toru  大阪大学, 医学部附属病院, 医員 (20792469)

Project Period (FY) 2017-04-01 – 2020-03-31
Keywords神経膠腫 / 遺伝子変異 / コピー数異常 / 不均一性
Outline of Final Research Achievements

We conducted the largest-ever retrospective cohort study for Japanese patients with glioblastoma and investigated the prognostic impact of copy number alterations (CNAs) using two population-based cohorts: an original Japanese cohort and a dataset from The Cancer Genome Atlas (TCGA). The results showed that the triple overlap CNAs in EGFR, CDKN2A, and PTEN (triple CNA) can be a common poor prognostic factor and that the discrepancies in the distribution of triple CNA in these two cohorts could provide a full account of the cohort disparities of survival duration.

Free Research Field

脳神経外科

Academic Significance and Societal Importance of the Research Achievements

希少疾患である膠芽腫において、国内200例を超えるIDH野生型膠芽腫の分子遺伝学的検討と詳細な生存解析を行った本研究は、アジア発の膠芽腫コホートとしては過去最大級となる。本研究成果により、「Triple CNA」などのゲノムコピー数異常が膠芽腫患者の新たな予後層別化因子となることが明らかとなった。さらにゲノムコピー数異常は、これまで報告されている膠芽腫の地域間予後格差の説明因子となり得ることが示された。地域差や人種差に着目した新たな膠芽腫臨床試験デザインや新規治療の開発が期待される。

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Published: 2021-02-19  

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