Genomic characterization and immunotherapy for microsatellite instability-high in cholangiocarcinoma

Genomic characterization and immunotherapy for microsatellite instability-high in cholangiocarcinoma

2024 | 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, Liquun Wu, Xiaobo Yang, Kai Wang, Haitao Zhao
This study investigated the genomic characteristics and immunotherapy efficacy of microsatellite instability-high (MSI-H) in cholangiocarcinoma (CCA). A total of 887 CCA patients were analyzed, with 5.4% (48/887) identified as MSI-H. MSI-H patients showed significantly higher tumor mutation burden (TMB) and PD-L1 expression compared to microsatellite stability (MSS) patients. Patients with MSI-H had longer overall survival (OS) and progression-free survival (PFS) when treated with PD-1 inhibitor-based immunotherapy. Integrating MSI-H status with PD-L1 expression (CPS ≥ 5) could distinguish immunotherapy efficacy. MSI-H was associated with higher TMB and more positive PD-L1 expression in CCA tumors. In advanced CCA patients receiving PD-1 inhibitor-based immunotherapy, MSI-H and positive PD-L1 expression were linked to improved OS and PFS. The study found that MSI-H status was a protective factor for both OS and PFS in multivariate analysis. However, PD-L1 expression was also a confounding factor. The TMB value of the MSI-H group was significantly higher than that of the MSS group, consistent with other studies. MSI-H patients had more indel alterations, similar to those in colorectal cancer. Mutated pathways such as SWI/SNF, BER, MMR, and HRR contributed to MSI-H status. The study also identified potential actionable targets (PATs) in CCA with different MSI statuses. The results suggest that MSI-H patients may benefit more from PD-1 inhibitor-based immunotherapy. The study highlights the importance of MSI-H status in CCA and its association with immunotherapy response. However, the study has limitations, including potential overestimation of MSI-H prevalence and the need for further validation in larger cohorts. The findings emphasize the role of MSI-H in CCA and its potential for precision medicine and immunotherapy.This study investigated the genomic characteristics and immunotherapy efficacy of microsatellite instability-high (MSI-H) in cholangiocarcinoma (CCA). A total of 887 CCA patients were analyzed, with 5.4% (48/887) identified as MSI-H. MSI-H patients showed significantly higher tumor mutation burden (TMB) and PD-L1 expression compared to microsatellite stability (MSS) patients. Patients with MSI-H had longer overall survival (OS) and progression-free survival (PFS) when treated with PD-1 inhibitor-based immunotherapy. Integrating MSI-H status with PD-L1 expression (CPS ≥ 5) could distinguish immunotherapy efficacy. MSI-H was associated with higher TMB and more positive PD-L1 expression in CCA tumors. In advanced CCA patients receiving PD-1 inhibitor-based immunotherapy, MSI-H and positive PD-L1 expression were linked to improved OS and PFS. The study found that MSI-H status was a protective factor for both OS and PFS in multivariate analysis. However, PD-L1 expression was also a confounding factor. The TMB value of the MSI-H group was significantly higher than that of the MSS group, consistent with other studies. MSI-H patients had more indel alterations, similar to those in colorectal cancer. Mutated pathways such as SWI/SNF, BER, MMR, and HRR contributed to MSI-H status. The study also identified potential actionable targets (PATs) in CCA with different MSI statuses. The results suggest that MSI-H patients may benefit more from PD-1 inhibitor-based immunotherapy. The study highlights the importance of MSI-H status in CCA and its association with immunotherapy response. However, the study has limitations, including potential overestimation of MSI-H prevalence and the need for further validation in larger cohorts. The findings emphasize the role of MSI-H in CCA and its potential for precision medicine and immunotherapy.
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