Genomic and epigenomic profiling of high stage neuroblastoma

2019 Fiscal Year Final Research Report

• Project/Area Number: 17K10131
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Pediatrics
• Research Institution: Research Institute for Clinical Oncology, Saitama Cancer Center
• Principal Investigator: Ohira Miki 埼玉県立がんセンター(臨床腫瘍研究所), 臨床腫瘍研究所, 主幹研究員 (20311384)
• Project Period (FY): 2017-04-01 – 2020-03-31
• Keywords: 神経芽腫 / ゲノム解析 / エピゲノム解析 / マイクロアレイ解析

Outline of Final Research Achievements

Neuroblastoma (NB) is the most common pediatric extracranial solid tumor with a wide range of clinical phenotypes. Although recent multidisciplinary treatment for NB improved patient outcomes, there still exists ultra-high-risk subset. In this study, meta-omics analysis of NB were performed to identify genomic signatures which characteraize high-risk type tumors. Target sequencing of high-risk NB cases registered in clinical studies and genome analysis of 92 ultra-high-risk NBs revealed certain genomic features characteristic in high-risk tumors. Based on these data, we designed a customized cancer gene panel which can survey gene alterations frequently observed in NB. In addition, from the 145 methylome data, several genomic regions which are highly methylated in high-risk NB were selected. The pediatric cancer panel and methylome markers will provide beneficial information for considering a subsequent therapeutic strategies for high-risk NBs.

Free Research Field

がんゲノム解析

Academic Significance and Societal Importance of the Research Achievements

本研究で得られたデータは、今後国際神経芽腫リスクグループ（INRG）が構築している神経芽腫リスク分類データベース(iINRGdb)と共有し、国内外での関連領域の研究や臨床への還元に活用される予定である。また、小児がんに特化したがん遺伝子パネルは神経芽腫のがんゲノム医療に貢献するものと期待される。