非小细胞肺癌患者肿瘤组织及外周血EGFR基因突变研究  

EGFR Gene Mutation in Tumor Tissue and Peripheral Blood from Patients with Non-Small-Cell Lung Cancer

作　　者：安超伦[1] 陆辉辉[1] 施海[1] 贾春平 

机构地区：[1]南通市第三人民医院心胸外科,江苏226006 [2]中科院上海微系统所基因芯片实验室

出　　处：《交通医学》2010年第6期612-616,共5页Medical Journal of Communications

基　　金：国家863课题(2006AA03Z334)

摘　　要：目的:调查非小细胞肺癌(NSCLC)患者EGFR基因突变的情况,评价EGFR突变检测对NSCLC个体化治疗的指导意义。方法:收集39例经手术治疗的NSCLC患者肿瘤组织、正常肺组织及外周静脉血标本,提取基因组DNA后,采用PCR扩增和基因测序方法检测EGFR基因外显子19、20和21基因突变情况,并用SPSS11.5软件进行统计学分析。结果:EGFR在正常肺组织中都未检出基因突变;肺癌组织中EGFR基因突变率为30.8%(12/39),以杂合性突变为主(91.7%,11/12),纯合性突变少见(8.3%,仅1例),外显子19、20和21分别占突变总数的41.7%(5/12),25.0%(3/12)和33.3%(4/12);外周血中检出的EGFR的突变率为33.3%(4/12),全部为肿瘤组织中存在突变者;EGFR基因突变多见于女性、腺癌及腺鳞癌、"不吸烟"患者,与年龄、临床分期均无明显相关性(P>0.05),与吸烟高度相关(P<0.01)。结论:NSCLC患者EGFR基因突变率较高,EGFR基因突变检测对NSCLC患者个性化治疗可能有指导意义。Objective：EGFR is widely recognized as an important target for cancer gene therapy.Patients with EGFR gene mutation is the molecular basis of non-sensitive or drug resistance to treatment.This study investigated non-small cell lung cancer（NSCLC） patients with EGFR mutations,to assess the detection of EGFR mutations in NSCLC chemotherapy guidance.Methods：A total of 39 cases of NSCLC and under-going surgery were enrolled in the study,including the tumor,normal lung tissue and peripheral blood.DNA was extracted and the EGFR gene in exons 19 to 21 was subjected for PCR amplification and direct sequencing.The statistical analysis was performed by using the SPSS programs.Results：The EGFR gene mutations were not detected in all normal lung tissues of the selected cases.EGFR gene mutations were found in 12 cases of the 39 NSCLC patients,with an incidence of 30.8%.Heterozygous mutation mainly accounted for 91.7%（11/12）,and homozygous mutation was rare,8.3%（only 1 case）.Exon 19,20 and 21 mutations account for a total number of 41.7%（5/12）,25.0%（3/12） and 33.3%（4/12）.The cases with EGFR gene mutations in peripheral blood owned the same type of mutation in their tumor tissue,and accounted for 33.3% of all（4/12）.The EGFR gene mutations were more frequently observed in the patients with clinical features of females,adenocarcinoma or adenosquamous carcinoma,and ＂never smokers＂.There was no significant difference with gender and clinical stage（P〉0.05）,but related to smoking closely（P〈0.01）.Conclusions：NSCLC patients with EGFR gene mutation rate is higher,EGFR gene mutations in NSCLC patients on treatment may be individualized guidance.

关 键 词：非小细胞肺癌 表皮生长因子受体 基因突变 肿瘤组织 外周血 

分 类 号：R734.2[医药卫生—肿瘤]