机构：[1]Department of Hepatobiliary Surgery, Shandong Provincial Hospital affiliated to Shandong First Medical University, Shandong, China.[2]Liver Disease Center, The Affiliated Hospital of Qingdao University, Qingdao, China.[3]Origimed, Shanghai, China.[4]Organ Transplant Center, The Affiliated Hospital of Qingdao University, Qingdao, China.[5]Liver Disease Center, The Affiliated Hospital of Qingdao University, Qingdao, China.[6]Department of Hepatobiliary Surgery, The Fourth Hospital of Hebei Medical University, Hebei, China.临床科室肝胆外科河北医科大学第四医院[7]Oncology Department, The Armed Police Characteristic Medical Center, Hebei, China.[8]Organ Transplant Center, The Affiliated Hospital of Qingdao University, Haier Road No. 59, Qingdao 266000, Laoshan District, China.
The goal of this study is to disclose the clinically significant genomic alterations in the Chinese and Western patients with intrahepatic cholangiocarcinoma.
A total of 86 Chinese patients were enrolled in this study. A panel of 579 pan-cancer genes was sequenced for the qualified samples from these patients. Driver genes, actionability, and tumor mutational burden were inferred and compared to a cohort of Western patients.
Totally, 36 and 12 driver genes were identified in the Chinese and Western cohorts, respectively. Of them, seven driver genes (IDH1, KRAS, TP53, BAP1, PBRM1, ARID1A, and NRAS) were shared by the two cohorts. Four driver genes (SPTA1, ARID2, TP53, and GATA1) were found significantly correlated with the tumor mutational burden. For both cohorts, half of the patients had actionable mutations. The two cohorts shared the most actionable genes but differed much in their frequency. Though KRAS mutations were at the first and second actionable rank respectively for the Chinese and Western populations, they were still at a relatively low level of actionable evidence.
The study on the clinical significance of genomic alterations directs the future development of precision medicine for intrahepatic cholangiocarcinoma treatment.
基金：
This work was supported by grants from the clinical medicine innovative
plan of Jinan (201907073).
第一作者机构：[1]Department of Hepatobiliary Surgery, Shandong Provincial Hospital affiliated to Shandong First Medical University, Shandong, China.
共同第一作者：
通讯作者：
推荐引用方式(GB/T 7714)：
Xu Shifeng,Guo Yuan,Zeng Yanwu,et al.Clinically significant genomic alterations in the Chinese and Western patients with intrahepatic cholangiocarcinoma.[J].BMC CANCER.2021,21(1):doi:10.1186/s12885-021-07792-x.
APA：
Xu Shifeng,Guo Yuan,Zeng Yanwu,Song Zhijian,Zhu Xiaodan...&Rao Wei.(2021).Clinically significant genomic alterations in the Chinese and Western patients with intrahepatic cholangiocarcinoma..BMC CANCER,21,(1)
MLA：
Xu Shifeng,et al."Clinically significant genomic alterations in the Chinese and Western patients with intrahepatic cholangiocarcinoma.".BMC CANCER 21..1(2021)
