Whole genome sequencing analysis of multiple liver cancer nodules for determination of causal events for multi-occurrence

2016 Fiscal Year Final Research Report

• Project/Area Number: 15K19915
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Digestive surgery
• Research Institution: Institute of Physical and Chemical Research
• Principal Investigator: Furuta Mayuko 国立研究開発法人理化学研究所, 統合生命医科学研究センター, 研究員 (00647183)
• Research Collaborator: Nakagawa Hidewaki 国立研究開発法人理化学研究所, 統合生命医科学研究センター, チームリーダー (50361621) ; Fujimoto Akihiro 国立研究開発法人理化学研究所, 統合生命医科学研究センター, 副チームリーダー (30525853)
• Project Period (FY): 2015-04-01 – 2017-03-31
• Keywords: 肝がん / 多発性 / 再発性 / 全ゲノムシークエンス

Outline of Final Research Achievements

In this study, we performed whole genome and RNA sequencing analyses of 49 tumors including two extra-hepatic metastases, and one nodule-in-nodule tumor from 23 HCC patients for the discrimination between multi-centric (MC) and intrahepatic metastasis (IM). Sequencing-based molecular diagnosis using somatic single nucleotide variation information showed higher sensitivity compared to previous techniques and proved useful in cases, which showed inconsistent clinical diagnoses. In addition, whole genome sequencing offered advantages in profiling of other genetic alterations, such as structural variations, copy number alterations, and variant allele frequencies, and helped to confirm the IM/MC diagnosis. Divergent alterations between IM tumors with sorafenib treatment, long time-intervals, or tumor-in-tumor nodules indicated high intra-tumor heterogeneity, evolution, and clonal switching of liver cancers.

Free Research Field

分子生物学、がんゲノム