广东地区非小细胞肺癌EGFR基因的突变研究

目的 探讨广东地区非小细胞肺癌(NSCLC)患者中EGFR基因的突变情况.方法 用微分离富集肿瘤细胞,采用QIAGEN DNA提取试剂盒提取基因组DNA,通过PCR扩增及DNA测序技术分析非小细胞肺癌患者中EGFR基因突变情况.结果 43例非小细胞肺癌中,有22例(51.2%)存在EGFR基因的突变,其中13例为外显子...

EGFR gene mutation status among NSCLC patients in Guangdong province

Objective To investigate EGFR gene mutations in non-small-cell lung cancers in Guangdong province. Methods The FFPE specimens were micro-dissected to enrich for tumor cells. Genomic DNA was extracted with the QIAamp DNA FFPE Tissue kit according to the instruction of the manufacturer, mutation analysis of EGFR gene was performed by PCR and bi-direction sequencing. Results EGFR mutation occurred in 51.2%（22/43） of our NSCLC cases, of which, 13 cases located at exon 19, delE746-A750 is the predominant mutation and 6 located at the exon 21, L858R is the predominant mutation; Moreover, there are 2 cases mutations at exon 19 and 21, one case at exon 19 and 20. The mutation rate was significantly higher in adenocarcinoma （70.4%, 19/27） than other types. Moreover, mutations were more frequently observed in females （78.6%, 11/14） than in males（37.9%, 11/29）. No statistically significance correlation was found between the mutation and metastasis, tumor differentiation. Conclusion EGFR gene mutation is significantly higher related to adenocarcinomas and females, the majority of mutations were in-frame deletion at exon 19 in Guangdong province NSCLC patients.