Discovering novel genetic alterations in highly complicated genetic regions of pediatric brain tumors

2023 Fiscal Year Final Research Report

• Project/Area Number: 22K19591
• Research Category: Grant-in-Aid for Challenging Research (Exploratory)
• Allocation Type: Multi-year Fund
• Review Section: Medium-sized Section 56:Surgery related to the biological and sensory functions and related fields
• Research Institution: National Cancer Center Japan
• Principal Investigator: Suzuki Hiromichi 国立研究開発法人国立がん研究センター, 研究所, 分野長 (90751024)
• Project Period (FY): 2022-06-30 – 2024-03-31
• Keywords: 髄芽腫 / ゲノム解析

Outline of Final Research Achievements

In this project, we have discovered new genetic abnormalities in medulloblastoma. Medulloblastomas are classified into four subgroups, but it was previously unclear how Group 3 and Group 4 medulloblastomas develop. We have revealed that neural progenitor cells at the developmental stage of the rhombic lip, which becomes part of the cerebellum in the future, acquire abnormalities in the core-binding factor alpha (CBFA) complex, leading to the cessation of neural differentiation and consequently the development of medulloblastoma. Furthermore, a method has been developed to analyze parts of the cancer genome that are difficult to analyze.

Free Research Field

神経腫瘍学

Academic Significance and Societal Importance of the Research Achievements

これまで発症原因が不明であったGroup 3とGroup 4髄芽腫において新しい遺伝子異常が発見され、なぜ腫瘍が発生するのかが明らかになったことから、今後新しい治療へと繋がる可能性がある。腫瘍化する起源となる細胞も同定されたため、腫瘍に特徴的な遺伝子をターゲットとする治療や予防的な治療への発展が期待できる。また、疾患モデルの構築にもつながるため、基礎研究の発展も促す研究成果である。