Integrated genomic analysis of aggressive subtype of neuroblastoma

2016 Fiscal Year Final Research Report

• Project/Area Number: 26461603
• 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 (2015-2016); Chiba Cancer Center (Research Institute) (2014)
• 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)
• Co-Investigator(Renkei-kenkyūsha): NAKAGAWARA Akira 佐賀県医療センター好生館, 理事長 (50117181)
• Project Period (FY): 2014-04-01 – 2017-03-31
• Keywords: 神経芽腫

Outline of Final Research Achievements

Neuroblastoma (NB) is the most common pediatric extracranial solid tumor, originating from the sympathoadrenal lineage of neural crest. Despite intense multi-modal therapy, NB remains the second most common cause of cancer deaths among children. To elucidate molecular basis for malignant type of NB, we have conducted integrated genomic analyses, including array CGH, whole exome sequencing, transcriptome and methylome profiling. Whole exome sequencing of 30 high stage primary tumors identified approximately 20 non-silent somatic mutations and indels per tumor in average, among which 27 were recurrent mutations appeared >2. Pathway analysis revealed enrichment of the mutated genes in the MAPK pathway and the axon guidance pathway. Methylome profiling suggested the existence of three clusters with different survival rates. Altogether, these genomic features can help understand NB pathogenesis and contribute risk stratification for therapy.

Free Research Field

ゲノム腫瘍学