非小细胞肺癌EGFR基因突变检测与临床意义

Epidermal Growth Factor Receptor Gene Mutation and Its Clinical Significance in Non-small Cell Lung Cancer

采用荧光PCR法对199例晚期非小细胞肺癌(NSCLC)组织进行表皮生长因子受体(EGFR)基因突变检测,分析EGFR基因突变的分布特征及其与临床病理特征的相关性。结果显示56例(28.1%)存在EGFR基因突变,其中27例(13.6%)为外显子19突变,25例(12.6%)为外显子21突变,2例为外显子18突变,1例外显子20突变,1例外显子18和20的共突变。另外,除广东及安徽省铜陵市外,辽宁地区NSCLC患者EGFR基因突变率及主要突变类型与其他地区相符,常见于外显子19、21突变,其中腺癌、不吸烟患者突变率更高,更适宜EGFR-TKI靶向治疗。

The real-time fluorescence PCR were used to detect EGFR mutations in 199 non-small cell lung cancer （NSCLC） tissue specimens ,and the relationship between EGFR mutations and clinicopathological features were analyzed .EGFR gene mutation occurred in 56 （28 .1% ） patients with NSCLC .Exon 19 mutation occurred in 27 patients （13 .6% ） ,exon 21 mutation occurred in 25 patients （12 .6% ） ,exon 18 and exon 20 mutations occurred in 2 patients respectively ,and 1 patient was detected with both exon 18 and exon 20 mutations .The EGFR mutation rate and the main mutation types of NSCLC patients in Liaoning province in China are basically identical with other regions except Guangdong and Tongling in Anhui ,which was common in exon 19 and 21 mutations .The mutation rate of patients with adenocarcinoma and non-smoking patients was higher ,and more suitable for EGFR-TKI targeted therapy .