Genome-Wide Association Study for Central Nervous System Germ Cell Tumor

2019 Fiscal Year Final Research Report

• Project/Area Number: 18K15230
• Research Category: Grant-in-Aid for Early-Career Scientists
• Allocation Type: Multi-year Fund
• Review Section: Basic Section 50010:Tumor biology-related
• Research Institution: National Center for Child Health and Development
• Principal Investigator: Terashima Keita 国立研究開発法人国立成育医療研究センター, 小児がんセンター, 診療部長 (70649681)
• Project Period (FY): 2018-04-01 – 2020-03-31
• Keywords: 中枢神経胚細胞腫瘍 / GWAS / WGS / SNPアレイ

Outline of Final Research Achievements

The purpose of this study is to identify disease susceptibility genes in central nervous system germ cell tumors by genome-wide association analysis. DNA was extracted from 138 peripheral blood samples of patients and survivors who obtained consent to participate in the study at 8 medical institutions nationwide.
The DNA sample was sent to Osaka University, which is a research cooperation institute, and subjected to gene decoding using a single nucleotide polymorphism array customized for Japanese population. Currently, data analysis is being performed to identify the genotypes and genes associated with the development of this disease.
In addition, the sample was sent to the University of Connecticut, and gene analysis using a new technique called whole genome sequencing is in progress.

Free Research Field

小児脳腫瘍

Academic Significance and Societal Importance of the Research Achievements

感受性遺伝子の解明によって、本腫瘍の、個人の遺伝情報に応じた発がん機構をつきとめることが可能となる。その分子機構を阻害する分子標的薬によって、従来の非特異的治療を代替・補完するオーダーメイド治療の開発が成功すれば、本腫瘍に罹患した子どもや若者の生存率の向上のみならず、生存者の晩期合併症を軽減し、良好な成長発達と充実した社会活動を得ることができる。
胚細胞腫瘍には家族内発生例があることから、患者家族の生殖細胞系列において感受性遺伝子の変異を調べることで、個人の遺伝情報に応じた発症予測が可能となり、スクリーニング検査による早期発見早期治療といった2次予防に活用することができる。