基于RRA方法的胆道系统肿瘤热点突变基因分析
Hot-spot mutant genes in bile tract tumors: A comprehensive analysis based on RRA method

摘要：目的 对胆道系统肿瘤，包括肝内胆管癌(ICC)、肝外胆管癌(ECC)及胆囊癌(GBC)的突变基因进行分析，找出胆道系统肿瘤中热点突变基因。方法 检索Web of Knowledge、Scopus、PubMed数据库，根据纳入及排除标准纳入文献。最终纳入14篇符合标准的文献，对每一篇文章中的突变基因情况进行统计，运用RRA方法进行分析，寻找ICC、ECC、GBC的热点突变基因。结果 找到ICC的热点突变基因为IDH1(突变频率16.9%)、KRAS(突变频率15.7%)；ECC热点突变基因为KRAS(突变频率47.0%)、TP53(突变频率29.4%)；GBC热点突变基因为TP53(突变频率36.8%)、KRAS(突变频率18.4%)。同时，发现IDH1基因突变为ICC中特有的基因突变类型。 结论 胆道系统肿瘤中，IDH1、KRAS、TP53为其热点突变基因。其中，KRAS为胆道系统肿瘤共有热点突变基因，IDH1为ICC中特有的热点突变基因。
ABSTRACT: 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