摘要胆道恶性肿瘤是一类侵袭性极强的肿瘤，早期临床表现隐匿，病情进展迅速，手术切除通常不能取得满意的治疗效果，对放疗和化疗均不敏感，此类患者预后极差。以二代测序技术为基础的基因组学研究取得一定进展，初步揭示了胆道恶性肿瘤的基因突变图谱，为胆道恶性肿瘤的分子分型奠定基础。本文就近年来胆道系统恶性肿瘤基因突变谱的研究进展及其转化研究和临床应用进行综述，旨在为临床诊疗和基础研究提供参考。

abstractsBiliary tract cancer is characterized by high invasiveness, occult early clinical manifestations and rapid progression. Surgical resection typically fails to achieve satisfactory outcomes. Biliary tract cancer exhibits low sensitivity to radiotherapy and chemotherapy. The prognosis of patients is extremely poor. Genomics research based on next-generation sequencing technology has made some advances. The gene mutation spectrum of biliary tract cancer has been preliminarily revealed, which lays a foundation for the study of molecular typing. This review summarizes the research progress and clinical application of gene mutation spectrum of biliary tract cancer in recent years, aiming to provide reference for the clinical diagnosis, treatment and basic research.