陕西省南部地区非小细胞肺癌EGFR基因突变分析

目的:探讨陕西南部非小细胞肺癌表皮生长因子受体基因的突变状况。方法:采用测序方法检测陕西省南部地区233例非小细胞肺癌(non-small cell lung cancer,NSCLCs)患者表皮生长因子受体(epithelial growth factor receptor,EGFR)基因第18、19、20和21号外显子突变情况,并分析其基因突变与肺癌人口学分布及组织类型的关系。结果:233例非小细胞肺癌患者中,共检出82例含有EGFR基因突变,其中第18、19、21号外显子突变率分别为1.3%、16.3%和18.0%,第20号外显子无突变;男性EGFR基因突变率(31.2%,39/125)低于女性(39.8%,43/108);腺癌EGFR基因突变率(39.1%,75/192)高于鳞癌(22%,9/41)。结论:陕西南部NSCLC的EGFR基因突变率较高,以第19、21号外显子突变为主。EGFR基因变率与NSCLC患者性别和病理类型均无关。

EGFR Mutation Status among NSCLCs in Southern Shaanxi

ABSTRACT Objective: To analyze the EGFR gene polymorphism in the non-small cell lung (NSCLCs) cancer in southern of Shaanxi Province. Methods: The next generation sequencing technology was used to detect the mutation of exon 18, 19, 20 and 21 of EGFR gene. We analyzed EGFR gene mutation rate in NSCLCs patients. 233 patients was involved in our study. Results: 82 cases with EGFR gene mutations was found, the mutation rate of exon18, 19, 20 and 21 was 1.3%, 16.3%, 0% and 18% respectively. The mutation rate of EGFR in male patients was lower (31.2%, 39/125) than that of female cases (39.8%, 43/108), the mutation rate of squamous cell carcinoma (22%, 9/41) was lower than that of adenocarcinoma (39.1%, 75 /192). Conclusion: NSCLCs patients from southern Shaanxi Province had high mutation rate of EGFR gene, and exon 19 and exon 21 mutations were in the majority. EGFR gene mutation rate was not related to gender and pathological types.