基于下一代测序分析晚期胆道肿瘤患者基因特征

Analysis of gene characteristics of patients with advanced biliary tract cancer based on next generation sequencing

目的通过下一代测序(NGS)技术分析晚期胆道肿瘤患者的基因状态,了解胆道肿瘤靶向药物相关基因及免疫疗效相关生物学标记物特征,以期指导临床用药。方法回顾性分析2016—2021年间海军军医大学第三附属医院肿瘤科进行NGS检测的108例不可切除的晚期胆道肿瘤患者,收集这些患者的临床病例特征及NGS数据并进行基因特征分析。结果108例胆道肿瘤患者共涉及180个基因位点突变,包括晚期胆道肿瘤8种靶向成药相关基因及3种免疫疗效预测标志物。肿瘤细胞PD-L1表达阳性率为17.6%。TMB最高值48.46 mut/Mb,中位数为2.9 mut/Mb。TMB-H患者共6例,MSI-H患者共6例,提示其TMB高于MSS/MSI-L。结论通过NGS分析基因特征可为晚期胆道肿瘤患者筛选到更精准的治疗方案,或为其带来更长的生存获益。

Objective To analyze the gene status of patients with advanced biliary tract cancer through next generation sequencing(NGS),and understand the genes related to biliary tract cancer targeted drugs and biological markers of immune efficacy were performed,in order to guide clinical medication.Methods Retrospective analysis of 108 unresectable advanced biliary tract cancer with NGS testing in the Third Affiliated Hospital of Naval Military Medical University from 2016 to 2021,and the clinical case characteristics and NGS data of these patients were collected.Genetic characteristics were analyzed.Results A total of 108 biliary tract cancer patients had mutations in 180 genes,including 8 targeted drug-related genes and 3 predictive markers of immune efficacy,tumor cells expressed 17.6%,the highest TMB 48.46 mut/Mb,median value of 2.9 mut/Mb,6 TMB-H patients and 6 MSI-H patients with significantly higher TMB than MSS/MSI-L.Conclusions Analysis of gene characteristics by NGS can screen for a more accurate treatment regimen and possibly a longer survival benefit for patients in advanced biliary tract cancer.