Clinically significant shared and distinct genomic alterations in Chinese and Western patients with intrahepatic cholangiocarcinoma

Abstract BackgroundThe goal of this study is to disclose the clinically significant genomic alterations in patients with intrahepatic cholangiocarcinoma of the Chinese and Western populations.MethodsA total of 86 Chinese patients were enrolled in this study. Samples from those patients were sequenced for a panel of pan-cancer genes. Results were compared to a public dataset from a cohort of Western patients. The comparison between the two populations was conducted in the driver genes, actionability, and tumor mutational burden.ResultsThe Chinese and Western cohorts had 36 and 12 driver genes, respectively. Seven driver genes ( IDH1 , KRAS , TP53 , BAP1 , PBRM1 , ARID1A, and NRAS ) were shared by the two cohorts. For both cohorts, half of the patients had actionable mutations. The two cohorts shared most of the actionable genes but differed much in the frequency. Though KRAS mutations were at the first and second actionable rank respectively for Chinese and Western populations, they were still at a relatively low level of actionable evidence. Four driver genes ( SPTA1 , ARID2 , TP53 , and GATA1 ) were found significantly correlated with the tumor mutational burden.ConclusionsThe revealed genomic alterations with clinical significance could help to improve the treatment of intrahepatic cholangiocarcinoma.