基于RRA方法的胆道系统肿瘤热点突变基因分析

Objective: To analyze mutant genes in intrahepatic cholangiocarcinoma (ICC), extrahepatic cholangiocarcinoma (ECC) and gallbladder carcinoma (GBC) by robust rank aggregation (RRA) method to identify the differentially expressed mutant genes among these different types of bile tract tumors. Methods: We searched the Web of Knowledge, Scopus and PubMed databases, screened related references according to inclusion and exclusion criteria. Fourteen studies were included. We analyzed the mutant genes mentioned in each paper; used RRA method to identify hot-spot mutant genes in ICC, ECC and GBC; allocated the special mutant genes in bile tract tumors. Results: We confirmed that IDH1 (mutation frequency 16.9%) and KRAS (mutation frequency 15.7%) were hot-spot mutant genes in ICC. KRAS (mutation frequency 47.0%) and TP53 (mutation frequency 29.4%) were hot-spot mutant genes in ECC. TP53 (mutation frequency 36.8%) and KRAS (mutation frequency 18.4%) were hot-spot mutant genes in GBC. Furthermore, among the three kinds of bile tract tumors, IDH1 was identified as a special mutant gene in ICC. Conclusion: IDH1, KRAS and TP53 are hot-spot mutant genes in patients with bile tract tumors. Moreover, mutant KRAS is the common mutant gene in cholangiocarcinoma and IDH1 mutation may play a special role in ICC.