학술논문
Genomic characterization and immunotherapy for microsatellite instability-high in cholangiocarcinoma
Document Type
article
Author
Xu Yang; Baofeng Lian; Nan Zhang; Junyu Long; Yiran Li; Jingnan Xue; Xiangqi Chen; Yunchao Wang; Yanyu Wang; Ziyu Xun; Mingjian Piao; Chenpei Zhu; Shanshan Wang; Huishan Sun; Zhijian Song; Leilei Lu; Xiaowei Dong; Aodi Wang; Wenjin Liu; Jie Pan; Xiaorong Hou; Mei Guan; Li Huo; Jie Shi; Haohai Zhang; Jinxue Zhou; Zhenhui Lu; Yilei Mao; Xinting Sang; Liqun Wu; Xiaobo Yang; Kai Wang; Haitao Zhao
Source
BMC Medicine, Vol 22, Iss 1, Pp 1-14 (2024)
Subject
Language
English
ISSN
1741-7015
Abstract
Abstract Background Microsatellite instability-high (MSI-H) is a unique genomic status in many cancers. However, its role in the genomic features and immunotherapy in cholangiocarcinoma (CCA) is unclear. This study aimed to systematically investigate the genomic characterization and immunotherapy efficacy of MSI-H patients with CCA. Methods We enrolled 887 patients with CCA in this study. Tumor samples were collected for next-generation sequencing. Differences in genomic alterations between the MSI-H and microsatellite stability (MSS) groups were analyzed. We also investigated the survival of PD-1 inhibitor-based immunotherapy between two groups of 139 patients with advanced CCA. Results Differential genetic alterations between the MSI-H and MSS groups included mutations in ARID1A, ACVR2A, TGFBR2, KMT2D, RNF43, and PBRM1 which were enriched in MSI-H groups. Patients with an MSI-H status have a significantly higher tumor mutation burden (TMB) (median 41.7 vs. 3.1 muts/Mb, P