The genomic and epigenomic landscape in thymic carcinoma

2016 Fiscal Year Final Research Report

• Project/Area Number: 26461206
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Respiratory organ internal medicine
• Research Institution: National Cancer Center Japan
• Principal Investigator: Fujiwara Yutaka 国立研究開発法人国立がん研究センター, 中央病院, 医長 (70464261)
• Research Collaborator: Asao Tetsuhiko ; Kohno Takashi ; Ichikawa Hitoshi ; Saito Motonobu
• Project Period (FY): 2014-04-01 – 2017-03-31
• Keywords: 胸腺癌 / 化学療法 / 遺伝子Profile / 次世代シークエンサー

Outline of Final Research Achievements

The aim of this study is to investigate the genomic and epigenomic alterations by next generation sequencing of thymic cancer as target for anti-cancer therapy. Sixty-four consecutive patients with thymic carcinoma treatedat the National Cancer Hospital between 1973 and 2014 were included in this study.
Tissue samples of 52 patients (81.3%) were available for targeted sequencing of mutation hot spots in 50cancer-related genes by IonAmpliseq Cancer Hotspot Panel v2. The genetic alterations of TP53, KRAS, FBXW7, and NRAS were detected in 7 patients (13.5%).　In whole exome and transcriptome sequencing from paired snap-frozen cancerous or non-cancerous tissues (n=10), we identified a mutation signature consisting of enrichment for C>T substitutions at CpG dinucleotides. And we also identifies thymic cancers with TET2 mutations had more hypermethylated genes than those without, and hyper-methylation was associated with downregulation of gene expression.

Free Research Field

腫瘍内科