Mutational landscape of intrahepatic cholangiocarcinoma

Shanshan Zou, Jiarui Li, Huabang Zhou, Christian Frech, Xiaolan Jiang, Jeffrey S. C. Chu, Xinyin Zhao, Yuqiong Li, Qiaomei Li, Hui Wang, Jingyi Hu, Guanyi Kong, Mengchao Wu, Chuanfan Ding (), Nansheng Chen () and Heping Hu ()
Additional contact information
Shanshan Zou: Eastern Hepatobiliary Surgery Hospital, Second Military Medical University
Jiarui Li: Simon Fraser University
Huabang Zhou: Eastern Hepatobiliary Surgery Hospital, Second Military Medical University
Christian Frech: Simon Fraser University
Xiaolan Jiang: Eastern Hepatobiliary Surgery Hospital, Second Military Medical University
Jeffrey S. C. Chu: Wuhan Frasergen Bioinformatics Co. Ltd
Xinyin Zhao: Simon Fraser University
Yuqiong Li: Eastern Hepatobiliary Surgery Hospital, Second Military Medical University
Qiaomei Li: Eastern Hepatobiliary Surgery Hospital, Second Military Medical University
Hui Wang: Eastern Hepatobiliary Surgery Hospital, Second Military Medical University
Jingyi Hu: School of Medicine, Jiao Tong University
Guanyi Kong: Wuhan Frasergen Bioinformatics Co. Ltd
Mengchao Wu: Eastern Hepatobiliary Surgery Hospital, Second Military Medical University
Chuanfan Ding: Fudan University
Nansheng Chen: Simon Fraser University
Heping Hu: Eastern Hepatobiliary Surgery Hospital, Second Military Medical University

Nature Communications, 2014, vol. 5, issue 1, 1-11

Abstract: Abstract Intrahepatic cholangiocarcinoma (ICC) is a fatal primary liver cancer (PLC) that affects 5–10% of all PLCs. Here we sequence tumour and matching control sample pairs of a large cohort of 103 ICC patients in China, resulting in the identification of an ICC-specific somatic mutational signature that is associated with liver inflammation, fibrosis and cirrhosis. We further uncover 25 significantly mutated genes including eight potential driver genes (TP53, KRAS, IDH1, PTEN, ARID1A, EPPK1, ECE2 and FYN). We find that TP53-defective ICC patients are more likely to be HBsAg-seropositive, whereas mutations in the oncogene KRAS are nearly exclusively found in HBsAg-seronegative ICC patients. Three pathways (Ras/phosphatidylinositol-4,5-bisphosphate 3-kinase signalling, p53/cell cycle signalling and transforming growth factor-β/Smad signalling), genes important for epigenetic regulation and oxidative phosphorylation are substantially affected in ICC. We reveal mutations in this study that may be valuable for designing further studies, better diagnosis and effective therapies.

Date: 2014
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DOI: 10.1038/ncomms6696

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