安徽地区非小细胞肺癌患者表皮生长因子受体基因突变分析  

Analysis on genetic mutations of epidermal growth factor receptor in non-small cell lung cancer patients in anhui areas

作　　者：张新晨 吴齐兵[1,2] 沈兵[2] 陶晓成 白宗胜 ZHANG Xin-chen;WU Qi-bing;SHEN Bing;TAO Xiao-cheng;BAI Zong-sheng(Department of Radiation Oncology,The First Affiliated Hospital of Anhui Medical University,Hefei 230022,Anhui Province,China;Anhui Medical University,Hefei 230022,Anhui Province,China;Hefei Novel Gene Technology Service Company,Hefei 230022,Anhui Province,China)

机构地区：[1]安徽医科大学第一附属医院肿瘤放疗科,安徽合肥230022 [2]安徽医科大学,安徽合肥230022 [3]合肥诺为尔基因科技服务有限公司,安徽合肥230022

出　　处：《中国临床药理学杂志》2021年第11期1322-1325,1329,共5页The Chinese Journal of Clinical Pharmacology

基　　金：安徽省自然科学基金资助项目(1808085MH246)。

摘　　要：目的研究安徽地区非小细胞肺癌(NSCLC)患者表皮生长因子受体(EGFR)基因突变与临床特征的关系。方法纳入NSCLC患者481例,其中石蜡组织样本361例,血液样本94例,胸水样本26例。用高通量测序技术检测EGFR基因突变情况,分析EGFR突变与临床特征的关系。结果 NSCLC患者EGFR突变率为38.88%(187例/481例)。其中女性突变率(52.68%,108例/205例)高于男性(28.62%,79例/276例);腺癌突变率(42.93%,173例/403例)高于非腺癌突变率(17.94%,14例/69例),两者间比较差异均有统计学意义(均P<0.01)。石蜡组织和胸水的EGFR检出率高于血液,差异有统计学意义(P<0.05)。EGFR突变患者中,19-del突变率为47.59%(89例/187例), L858R突变率为40.11%(75例/187例),女性突变率高于男性;腺癌突变率高于非腺癌突变率,差异均有统计学意义(P<0.05)。结论安徽地区NSCLC患者的EGFR基因突变多见于女性、腺癌患者,突变类型主要为19-del和L858R,不同类型样本EGFR突变存在差异,临床医师送检时应正确选取样本。Objective To investigate the relationship between genetic mutations of epidermal growth factor receptor(EGFR) gene and clinical characteristics in non-small cell lung cancer(NSCLC) patients in Anhui areas. Methods Four hundred and eighty one NSCLC patients were included, of which there were 361 paraffin-embedded tissue samples, 94 blood samples and 26 pleural effusion samples.The mutations of EGFR gene were tested via high throughput sequencing technology, and the relationship between EGFR mutations and clinical characteristics was analyzed. Results The mutation rate of EGFR in NSCLC patients in Anhui province was 38.88%(187 cases/481 cases), the mutation rate of female(52.68%,108 cases/205 casese) was higher than that of male(28.62%, 79 cases/276 cases), adenocarcinoma(42.93%,173 cases/403 cases) was higher than non-adenocarcinoma(17.94%, 14 cases/69 cases), and the differences were statistically significant(all P<0.01). The EGFR detection rate of paraffin-embedded tissue and pleural effusion was higher than that of blood, and the difference was statistically significant(P<0.05).Among the patients with EGFR mutations, the mutation rate of 19-del was 47.59%(89 cases/187 cases) and L858 R 40. 11%( 75 cases/187 cases),the mutation rate of female was higher than that of male,adenocarcinoma was higher than non-adenocarcinoma,and the differences were statistically significant( all P < 0. 05). Conclusion The mutations of EGFR gene in NSCLC patients in Anhui areas are common in female and adenocarcinoma,the mutation types are mainly 19-del and L858 R,and there are differences in the EGFR mutations in different types of samples,so clinicians should choose the samples properly for inspection.

关 键 词：非小细胞肺癌 表皮生长因子受体 基因突变 石蜡组织 血液 胸水 

分 类 号：R97[医药卫生—药品]