EGFR基因突变与肿瘤标志物表达的关联性及其对原发性肺癌的诊断价值  

Association of EGFR gene mutation with tumor marker expression and its value in the diagnosis of primary lung cancer

作　　者：邹传伟[1] 王小拍[2] 周丽霞[3] 

机构地区：[1]广州市第一人民医院普通内科,广东广州510000 [2]广州市第一人民医院病理科,广东广州510000 [3]广州市第一人民医院心胸外科,广东广州510000

出　　处：《海南医学》2017年第15期2426-2430,共5页Hainan Medical Journal

基　　金：广东省科技计划项目(编号:2012B31800327)

摘　　要：目的探讨原发性肺癌患者EGFR基因突变及系列肿瘤标志物表达状况,为肺癌的预防、预测、诊断和治疗提供依据。方法选择2014年3月至2015年12月期间广州市第一人民医院收治的160例原发性肺癌患者,取新鲜病理组织标本,用厦门艾德核酸提取试剂提取体细胞DNA,采用扩增阻滞突变系统荧光PCR(ARMS-PCR)技术检测EGER基因突变,采取外周静脉血用化学发光法检测血清系列肿瘤标志物,进行统计学分析。结果 160例肺癌患者中,EGER基因野生型比率为47.56%(78/164),EGER基因突变型比率为52.44%(86/164),突变型中21L858R点突变占23.17%(38/164),19Del突变占22.56%(37/164)。所检测肿瘤标志物按阳性率高低排序为:CYFRA21-1(351/537,65.36%)、CEA(346/532,65.04%)、CA125(203/361,56.23%)、CA153(137/358,38.27%)、CA724(116/365,31.78%)、CA199(71/366,19.40%)、NSE(84/536,15.67%)、SCC(47/535,8.79%)、AFP(31/364,8.52%)。EGER基因21L858R突变肺癌患者较19Del突变肺癌患者肿瘤标志物CEA阳性率高(71.97%和64.86%),但差异无统计学意义(P>0.05);随着CEA浓度梯度递增,EGER基因突变率也递增。结论肺癌致病与EGER基因突变、肿瘤标志物高表达关系密切,通过系列肿瘤标志物和EGER基因突变检测,将有助于肺癌的诊断和鉴别诊断,并为肺癌治疗手段选择提供依据。Objective To investigate the association of epidermal growth factor receptor（EGER） gene mutation with the expression of tumor markers in patients with primary lung cancer, and to provide evidence for the prevention, prediction, diagnosis and treatment of lung cancer. Methods The fresh pathological tissue specimens were collected from 160 patients with primary lung cancer who admitted to Guangzhou First People＇s Hospital from March 2014 to December 2015. Somatic cell DNA were extracted with Xiamen Amoy Dx？DNA and RNA Extraction Kits. Then ARMS-PCR technique was used to detect EGER gene mutations. The series of tumor markers were detected by taking the peripheral venous blood with chemiluminescence method, then the data were analyzed statistically. Results In 160 primary lung cancer patients, EGER gene wild type rate was 47.56% （78/164）, and EGER gene mutation type rate was 52.44% （86/164）.For EGER gene mutation type, the proportion of 21L858 R mutation was 23.17% （38/164）, and that of 19 Del mutation was 22.56% （37/164）.The detection of tumor markers sorted by positive rate as followes： 65.36% （351/537） of CYFRA21-1, 65.04% （346/532） of CEA, 56.23% （203/361） of CA125, 38.27% （137/358） of CA153, 31.78% （116/365） of CA724, 19.40% （71/366） of CA199, 15.67% （84/536） of NSE, 8.79% （47/535） of SCC, 8.52% （31/364） of AFP.Tumor markers CEA positive rate in lung cancer patients of EGER gene 21L858 R mutations was 71.97% , which was higher than 64.86% in patients with 19 Del mutations（P〉0.05）. As the CEA concentration gradient increasing, EGFR gene mutation rate was also increasing. Conclusion Lung cancer pathogenesis is closely related to EGER gene mutation and tumor marker overexpression. The detection of series of tumor markers and EGER mutation will contribute to the diagnosis and identification of lung cancer, and provide the basis for lung cancer treatment.

关 键 词：肺恶性肿瘤 EGFR基因 基因突变 肿瘤标志物 

分 类 号：R734.2[医药卫生—肿瘤]