肺腺癌EGFR基因19、21号外显子突变分析  

Mutational analysis of exons 19 and 21 of the EGFR gene in lung adenocarcinoma

作　　者：刘萌[1] 江烨[1] 蔡洪庆 马赛[1] 徐昕[1] 郝佳洁[1] 蔡岩[1] 王明荣[1] 

机构地区：[1]国家癌症中心/中国医学科学院北京协和医学院肿瘤医院分子肿瘤学国家重点实验室,北京100021

出　　处：《国际遗传学杂志》2016年第4期175-180,189,共7页International Journal of Genetics

基　　金：国家科技支撑计划（2014BA109801）;“重大新药创制”国家科技重大专项（2012ZX09506001-008）

摘　　要：目的探讨肺腺癌表皮生长因子受体（EGFR）基因19、21号外显子突变特点及其临床意义。方法对肺腺癌手术组织提取DNA，采用聚合酶链式反应（PCR）和直接测序法检测EGFR基因19号与21号外显子突变状态，分析与临床病理参数之间的相关性。结果在54例被测肺腺癌肿瘤中，发现29例患者存在EGFR基因突变，占53．7％（29／54）。其中，19号外显子突变13例（24．1％），均为缺失突变；21号外显子突变病例为16例（29．6％），均为L858R点突变。高、中分化肿瘤的EGFR突变率均达60％以上，明显高于低分化肿瘤突变率44％。结论肺腺癌存在较高频率的EGFR基因突变，在高、中分化肿瘤的突变率有高于低分化肿瘤的趋势。Objective To investigate epidermal growth factor receptor （EGFR） gene mutations in exons 19 and 21 in tumor tissues of lung adenocarcinoma （LADC） patients. Methods Operative specimens from 54 LADC patients were collected for mutational analysis of the EGFR gene. PCR-based direct DNA sequencing was adopted to investigate mutations in exons 19 and 21 of the EGFR gene in pri- mary tumors of LADC. Results The overall EGFR mutation rate was 53.7% （29/54） in tumors test- ed. The mutation rate of exon 21 was slightly higher than that of exon 19. Among them, 13 cases （24. 1% ） presented deletional mutations in exon 19, and 16 cases （29.6%）with L858R point mu- tations in exon 21. The mutation rate （〉 60% ） of the EGFR gene in well and moderatedly differentiated tumors was higher than that （44%） in poorly differentiated tumors. Conclusion The data suggest a high frequency of the EGFR gene mutation in Chinese lung adenocareinoma, especially in well and moder- ated]y differentiated tumors.

关 键 词：肺腺癌 EGFR 突变 缺失 

分 类 号：R734.2[医药卫生—肿瘤]