Article
Massive parallel sequencing uncovers actionable FGFR2-PPHLN1 fusion and ARAF mutations in intrahepatic cholangiocarcinoma.
Nature communications - 22 Jan 2015
Sia Daniela, Losic Bojan, Moeini Agrin, Cabellos Laia, Hao Ke, Revill Kate, Bonal Dennis, Miltiadous Oriana, Zhang Zhongyang, Hoshida Yujin, Cornella Helena, Castillo-Martin Mireia, Pinyol Roser, Kasai Yumi, Roayaie Sasan, Thung Swan N, Fuster Josep, Schwartz Myron E, Waxman Samuel, Cordon-Cardo Carlos, Schadt Eric, Mazzaferro Vincenzo, Llovet Josep M
Abstract excerpt
Intrahepatic cholangiocarcinoma (iCCA) is a fatal bile duct cancer with dismal prognosis and limited therapeutic options. By performing RNA- and exome-sequencing analyses, we report a novel fusion event, FGFR2-PPHLN1 (16%), and damaging mutations in the ARAF oncogene (11%). Here we demonstrate that the chromosomal translocation t(10;12)(q26;q12) leading to FGFR2-PPHLN1 fusion possesses transforming and oncogenic...
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