小细胞肺癌的基因突变特征及其与免疫标志物的相关性研究  

Study on gene mutation characteristics and its correlation with immunological markers in small cell lung cancer

作　　者：吴炫澎 贾志坤 姜涛 薛飞[1] 张广健[1] 付军科[1] 刘希[3] 吴齐飞[1] WU Xuanpeng;JIA Zhikun;JIANG Tao;XUE Fei;ZHANG Guangjian;FU Junke;LIU Xi;WU Qifei(Department of Thoracic Surgery,the First Affiliated Hospital of Xi’an Jiaotong University,Shaanxi,Xi’an 710061,China;不详)

机构地区：[1]西安交通大学第一附属医院胸外科,710061 [2]西安交通大学医学部 [3]西安交通大学第一附属医院病理科

出　　处：《临床外科杂志》2024年第11期1162-1165,共4页Journal of Clinical Surgery

摘　　要：目的研究小细胞肺癌病人的基因突变特征和免疫标志物的相关性。方法2019年1月~2020年收治小细胞肺癌病人155例,使用目标基因捕获测序方法对病人的基因突变情况进行检测,并检测部分病人的肿瘤突变负荷(tumor mutational burden,TMB)和PD-L1表达情况。结果在病人中共检测到了326种基因突变,其中最显著的突变基因是TP53和RB1。在突变频率高于15%的8种基因中,KMT2D、KMT2C、FAT1、NOTCH1发生突变的病人TMB高于未突变病人,差异有统计学意义(P<0.05)。结论小细胞肺癌病人最常见的突变基因是TP53和RB1。KMT2D、KMT2C、FAT1、NOTCH1可能成为判断小细胞肺癌免疫治疗效果的潜在标志物。Objective To investigate the relationship between gene mutation characteristics and immunological markers in patients with small cell lung cancer.Methods From January 2019 to 2020,155 patients with small cell lung cancer were admitted.Gene mutations were detected in these patients using target gene capture and sequencing method.Moreover,the tumor mutational burden(TMB)and expression of PD-L1 in some patients were detected.Results A total of 326 gene mutations were detected in the patients,the most significant of which were TP53 and RB1.Among the 8 genes with mutation frequency higher than 15%,patients with KMT2D,KMT2C,FAT1 and NOTCH1 mutations had higher TMB than those without mutation,and the difference was statistically significant(P<0.05).Conclusion The most common mutated genes in patients with small cell lung cancer are TP53 and RB1.

关 键 词：小细胞肺癌 基因突变 PD-L1 TMB 相关性研究 

分 类 号：R734.2[医药卫生—肿瘤]