广东地区非小细胞肺癌EGFR基因的突变研究  

EGFR gene mutation status among NSCLC patients in Guangdong province

作　　者：陈慧娟[1] 喻长顺[1] 李洪波[1] 程俊峰[1] 鲁碧稳[1] 郑建树[1] 

机构地区：[1]广州金域医学检验中心,广东广州510330

出　　处：《分子诊断与治疗杂志》2011年第1期29-32,共4页Journal of Molecular Diagnostics and Therapy

摘　　要：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QIAGENDNA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19的突变,突变类型以delE746-A750为主;6例为外显子21的突变,突变类型以L858R为主。另外,检测到2例外显子19和21的共突变和1例外显子19和20的共突变。在腺癌患者中的突变率为70.4%(19/27)高于非腺癌患者(18.8%),两者之间的差异具有统计学意义(P=0.010,﹤0.05);女性患者的突变率为78.6%(11/14)高于男性患者(37.9%),两者之间的差异具有统计学意义(P=0.012,<0.05)。同时,未发现EGFR基因的突变与肿瘤是否转移和其分化程度之间的相关性。结论在广东NSCLC中,EGFR基因的突变以外显子19的缺失突变为主,突变率以腺癌和女性较高。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.

关 键 词：非小细胞肺癌 表皮生长因子受体 体细胞突变 

分 类 号：R734.2[医药卫生—肿瘤]