非小细胞肺癌患者血清EGFR基因突变循环DNA检测  

EGFR gene mutation detection with circulating DNA and the targeting therapy response in advanced NSCLC patients

作　　者：姜北[1] 李晶[1] 巩平[1] 

机构地区：[1]石河子大学医学院第一附属医院肿瘤内科,新疆石河子832000

出　　处：《中华肿瘤防治杂志》2014年第1期29-33,共5页Chinese Journal of Cancer Prevention and Treatment

基　　金：石河子大学医学院第一附属医院院级课题(YL2011-017)

摘　　要：目的：探讨循环DNA测定表皮生长因子受体（epidermal growth factor receptor，EGFR）突变的可行性；旨在提供更方便、快捷、无创的分子生物检测手段，指导晚期非小细胞肺癌（non-small cell lung cancer，NSCLC）患者靶向治疗。方法：收集石河子大学医学院第一附属医院2011-09—21—2012—09—30接受靶向治疗（吉非替尼或厄洛替尼）的48例晚期NSCLC患者血清及相应石蜡组织标本DNA，采用直接测序法检测EGFR基因19和21外显子的突变情况，应用SPSS17．0软件进行统计学分析。结果：48例患者循环DNA中EGFR基因突变检出率为14．583％（7／48），且与组织DNA检测出EGFR突变类型一致，即19外显子突变型为19DelK746～A750、19DelK745～E749和19DelK745～A750；21外显子突变类型分别为21L858R和21L861Q。EGFR突变主要发生在女性及不吸烟的患者中；且EGFR基因突变型者PFS明显优于野生型患者，Y。一11．287，P一0．001。以组织DNA检测为准，循环DNA中EGFR基因突变检测的特异性为97％，并且与组织DNA检测EGFR基因突变具有一定的一致性，Kappa一0．433。结论：血清循环DNA可用于EGFR基因突变检测，为肺癌靶向治疗提供实验依据。OBJECTIVE：To verify the possibility of the EGFR （epidermal growth factor receptor） mutations deter ruination in circulation DNA,and offer a more convenience,quicken and noninvasive moths of EGFR gene test for patients with advanced NSCLC（non-small cell lung cancer）. METHODS： The serum and tumor tissue were collected from 48 cases advanced NSCLC patients who had target therapy experience （Ge{itininb or Erlotinib） in our hospital from September 21st,2011 to September 30th, 2012. The EGFR mutation status was re-evaluated by direct sequencing. The clinical out- comes were analyzed by SPSS 17.0. RESULTS： The detection rate of EGFR mutation in 48 serum tissue was 14. 583%（7/48） and the mutation types detected in the study were 19 DelK746-A750,19 DelK745-E749,19 DelK745-A750 of 19 exon mutation,and 21 L858R,21 L861Q of 21 exon mutation. EGFR mutations were liable to be detected in women and non-smokers, and the PFS of positive type was obviously superior to the wild type patients（X2= 11. 287, P= 0.001）. Com- pared with the tumor tissue samples, the specificity of the EGFR gene mutation detection in serum samples was 97%. There were certain consistencies between serum and tomer tissue for detection of EC-FR mutations （Kappa = 0. 433）. CONCLUSION： Serum circulating DNA can be used for EGFR gene mutation detection {or monitoring targeted therapy of lung cancer.

关 键 词：癌 非小细胞肺 循环DNA 基因 EGFR 突变 靶向治疗 

分 类 号：R734.2[医药卫生—肿瘤]