吸烟与非小细胞肺癌EGFR基因突变状态的关系

目的探讨吸烟与非小细胞肺癌(non-small cell lung cancer,NSCLC)中表皮生长因子受体(epidermal growth factor receptor,EGFR)基因突变状态的关系。方法采用ARMS法对628例NSCLC组织中EGFR基因第18、19、20和21号外显子进行突变检测,分析EGFR基因突变状态与患者性别、年龄、吸烟及临床分期的相关性,并复习相关文献。结果在NSCLC中,EGFR突变率与患者年龄、临床分期无相关性,与患者性别、吸烟状态相关。EGFR基因突变在腺癌、鳞癌、腺鳞癌及其他类型肺癌中的突变率分别为47.8%、12.5%、54.5%和0;吸烟NSCLC患者中,EGFR突变率(27.4%,77/281)低于非吸烟患者(56.8%,197/347);但吸烟NSCLC患者EGFR基因突变中的少见突变(23.3%,18/77)高于非吸烟患者(9.6%,19/197),非吸烟患者双突变中主要以Exon19 Del合并Exon20 T790M为主,吸烟患者中,可见多种多突变类型。结论 EGFR基因在腺癌、腺鳞癌及非吸烟患者中突变率较高;吸烟是NSCLC中EGFR突变率及少见突变的重要影响因素。

Correlation between smoking and EGFR gene mutation in non-small cell lung cancer

Purpose To investigate the correlation between smoking and the status of epidermal growth factor receptor (EGFR) gene mutation in non-small cell lung cancer (NSCLC). Methods 628 non-small cell lung cancer specimens from the First Affiliated Hospital of Xi'an Jiaotong University were collected from January 2015 to February 2017. The mutations of EGFR exons 18,19,20 and 21 of paraffin-embedded specimens were detected by ARMS. The correlation between EGFR gene muta- tion status and gender,age,smoking and clinical stage was analyzed. Results In non-small cell lung cancer specimens,the EGFR mutation rate was associated with gender and smoking status,but not with age or clinical stage. The mutation rates of EGFR gene in adenocarcinoma,squamous cell carcinoma,adenosquamous carcinoma and other types of lung cancer were 47.8%,12.5%,54.5% and 0 respectively. The EGFR mutation rate of NSCLC patients who were smoking (27.4%,77/281),was lower than that of non-smokers (56.8%,197/347). However,the rare mutation rate in smokers (23.3%,18/77) was higher than that in non-smokers (9.6%,19/197). The main EGFR multiple mutations in the non-smoking patients were Exon 19 Del combined with Exon 20 T790M,but a variety of rare mutation types were observed in smoking patients. Conclusion The mutation rate of EGFR gene is higher in adenocarcinoma,adenosquamous carcinoma and non-smoking patients. Smoking is an important factor affecting the EGFR mutation rate and rare mutations in NSCLC.