Comprehensive genomic and epigenomic analysis in Japanese glioma patients using a glioma tailored gene panel.

2022 Fiscal Year Final Research Report

• Project/Area Number: 21K16636
• Research Category: Grant-in-Aid for Early-Career Scientists
• Allocation Type: Multi-year Fund
• Review Section: Basic Section 56010:Neurosurgery-related
• Research Institution: Kagoshima University
• Principal Investigator: HIGA Nayuta 鹿児島大学, 医歯学域医学系, 助教 (90792200)
• Project Period (FY): 2021-04-01 – 2023-03-31
• Keywords: 遺伝子パネル / PDGFRA / EGFR / 遺伝子プロファイル

Outline of Final Research Achievements

In glioblastoma, we found that EGFR gene mutation was less frequent in Japan than in other countries, however EGFR mutations in the kinase domain in glioblastoma were more frequent in Japan than in other countries. We also found that the group with EGFR gene alterations had a better prognosis. On the other hand, we found that PDGFRA amplification is an independent poor prognostic factor in glioblastoma. Furthermore, we found that PDGFRA combined with MGMTp methylation can stratify prognosis, which may be useful in clinical practice. These findings suggest that incorporating a custom gene panel test into the diagnosis of glioblastoma could provide a more accurate diagnosis and be useful in predicting prognosis and response to therapy.

Free Research Field

脳神経外科学分野

Academic Significance and Societal Importance of the Research Achievements

本研究では膠芽腫において、ドライバー遺伝子のプロファイルとドライバー遺伝子変化がもつ臨床的意義を明らかにした。正確な診断だけでなく患者個別の治療戦略を立てるためにもゲノム解析による日本人特有の遺伝子プロファイリングを明らかにすることは重要である。本研究の知見から、カスタム遺伝子パネル検査を診断に組み込むことで、より高精度な診断が可能となり、予後及び治療反応性を予測する上でも有用であった。