临床外科杂志2024,Vol.32Issue(11) :1162-1165.DOI:10.3969/j.issn.1005-6483.20231211

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

吴炫澎 贾志坤 姜涛 薛飞 张广健 付军科 刘希 吴齐飞
临床外科杂志2024,Vol.32Issue(11) :1162-1165.DOI:10.3969/j.issn.1005-6483.20231211

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

吴炫澎 1贾志坤 2姜涛 1薛飞 1张广健 1付军科 1刘希 3吴齐飞1
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作者信息

  • 1. 710061 西安交通大学第一附属医院胸外科
  • 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
  • 折叠

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、NOTCH 1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.

Abstract

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.KMT2D,KMT2C,FAT1 and NOTCH1 may be potential markers for the efficacy of immunotherapy in small cell lung cancer.

关键词

小细胞肺癌/基因突变/PD-L1/TMB/相关性研究

Key words

small cell lung cancer/gene mutation/PD-L1/TMB/correlation study

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出版年

2024
临床外科杂志
中华医学会湖北分会

临床外科杂志

CSTPCD
影响因子:0.716
ISSN:1005-6483
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