临床与实验病理学杂志2019，Vol.35Issue(3)：286-290,5.DOI:10.13315/j.cnki.cjcep.2019.03.008
基于二代测序的300例非小细胞肺癌中驱动基因突变与临床病理特征的关系
Relationship between driver gene mutation and clinicopathological features in 300 cases of non-small cell lung cancer based on next generation sequencing
摘要
Abstract
Purpose To explore the mutation characteristics of common driver genes in non-small cell lung cancer (NSCLC) and its relationship with clinicopathological features.Methods Next generation sequencing (NGS) was used to detect the mutations of common driving genes such as EGFR, KRAS, ALK, ROS1, BRAF, MET, RET and HER-2 in 300 paraffin-embedded NSCLC tissues. Results In 300 patients with NSCLC, the mutation rates of EGFR, KRAS, ALK, ROS1, BRAF, MET, RET, HER-2 were 52.00％, 10.33％, 6.67％, 1.67％, 3.67％, 3.33％, 1.00％, and 2.33％, respectively. A case of EGFR 21 exon L858 R mutation was combined with LINCO1446-EGFR gene fusion. EGFR 20 th exon C797 S and T790 M existed in cis or trans form and merged with EGFR sensitive mutations in 1 case each. 3 cases of EGFR gene point mutation was associated with MET gene copy number amplification. EGFR mutations were more commonly detected in non-smoking women with lung adenocarcinoma (P<0.05).KRAS mutations were more commonly found in smoking men (P<0.05). ALK mutations were associated with age (P<0.05), and more commonly noted in patients younger than 60 years.ROS1 fusion mutations were associated with gender (P<0.05), more commonly detected in women. BRAF, MET, RET, and HER-2 gene mutations were not associated with gender, age, smoking, histological type, and c TNM stage. Conclusion EGFR can coexist with other driver gene mutations. Gene mutations and clinicopathological features like gender, age, smoking, and histological types have corresponding links. The incidence of BRAF, MET, RET, and HER-2 mutations is low, and its clinical significance remains to be explored. Coexisting gene mutations and rare mutations discovered by NGS should be taken seriously.关键词
肺肿瘤/非小细胞肺癌/二代测序/驱动基因/LINCO1446-EGFR基因融合Key words
lung neoplasm/non-small cell lung cancer/next generation sequencing/drive gene/LINCO1446-EGFR gene fusion分类
医药卫生引用本文复制引用
黄清洁,陈天东,陈海瑞,贺佳子,姜国忠,李文才,陈壬寅..基于二代测序的300例非小细胞肺癌中驱动基因突变与临床病理特征的关系[J].临床与实验病理学杂志,2019,35(3):286-290,5.基金项目
河南省科技厅普通攻关项目(162102310188) （162102310188）
河南省科技厅国际合作项目(142300410208) （142300410208）
河南省医学科技攻关计划项目(201503028) （201503028）
