摘要
目的：分析晚期肺癌的上皮生长因子受体（epidermal growth factor receptor，EGFR）外显子19基因突变的类型及发生率。方法：从血清中提取游离DNA进行EGFR外显子19特异性PCR扩增和基因测序。结果：24例肺部良性疾病血样中EGFR基因外显子19均为野生型；而130例肺癌血样中检出突变55例，EGFR外显子19基因突变的检出率为42．3％。外显子19基因突变均为第746～752位密码子的碱基缺失，共有7种突变类型。外显子19基因突变主要见于肺腺癌及小细胞肺癌，其检出率分别为58．9％和57．1％，突变与患者年龄及性别无明显相关性。在肺癌的不同组织类型中，外显子19的突变形式存在显著差异，肺隙癌的基因突变谱与肺鳞癌、腺鳞癌及小细胞肺癌明显不同。结论：晚期肺癌病人的血清游离DNA中存在EGFR基因突变，这类突变可以通过适当的方法检测出来，这种血液检测方法在晚期肺癌的EGFR基因诊断及靶向治疗中具有广泛的应用价值。
Objective：To analyze the incidence and profile of the exon 19 mutations of the epidermal growth factor receptor （EGFR） in patients with advanced lung cancer. Methods：The circulating DNA isolated from serum was subjected for the EGFR exon 19-specific PCR amplification and direct sequencing. Results： The wild type exon 19 of EGFR was identified in 24 cases of patients with benign pulmonary diseases. Mutations were detected in 55 cases of 130 patients with lung cancer, with the incidence of 42.3%. The mutations in exon 19 were all in frame deletion of the codon 746 to 753, consisting of 7 different types. Mutations occurred predominantly in samples of patients with adenocarcinoma and small cell lung cancer, with the incidence of 58.9% and 57. 1%, respectively. The mutation was not closely related with age and gender. The profile of mutations varied among the different histological types of lung cancer and the mutation pattern in adenocarcinoma was quite different from lung squamous carcinoma, adeno-squamous carcinoma, and small cell lung cancer. Conclusion： The EGFR mutation exists in the serum circulating DNA from patients with advanced lung cancer. These mutations can be detected with suitable methods that will enable us to get a potential implication in the diagnosis and targeted therapy of this disease at late stage.
出处
《肿瘤》
CAS
CSCD
北大核心
2006年第1期59-63,共5页
Tumor
关键词
肺肿瘤
血清
游离DNA
受体
表皮生长因子
突变
Lung neoplasms
Serum
Circulating DNA
Receptor,epidermal growth factor
Mutation
