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目的:分析我国肺腺癌患者上皮生长因子受体(EGFR)基因突变的发生率和突变类型。方法:在上海、杭州和昆明等地收集61例肺腺癌及其正常肺组织,采用PCR扩增和基因测序方法对组织DNA中EGFR外显子19~21基因突变进行分析。结果:正常肺组织中EGFR基因均为野生型,肺腺癌组织中EGFR基因突变检测率为47.5%(29/61),其中外显子19和21突变分别占突变总数的55.2%(16/29)和44.8%(13/29),外显子20未检测到突变。外显子19突变发生在第746~752位密码子,均为碱基缺失突变,有6种不同类型。外显子21突变全部是第858位密码子碱基替换突变。EGFR基因突变与患者性别和年龄无显著相关性。但昆明和上海等地患者的基因突变存在明显差异。结论:EGFR基因突变是一种肿瘤特异性的体细胞遗传改变,突变发生率约占肺腺癌总数的一半,其中以外显子19和21突变为主。我国EGFR基因突变存在地域差异。
Objective: To analyze the incidence and mutation types of EGFR gene mutation in patients with lung adenocarcinoma in China. Methods: Totally 61 cases of lung adenocarcinoma and its normal lung tissues were collected from Shanghai, Hangzhou and Kunming. The mutations of EGFR exon 19 ~ 21 gene in tissue DNA were analyzed by PCR amplification and gene sequencing. Results: The EGFR gene in normal lung tissue was wild type. The detection rate of EGFR gene mutation in lung adenocarcinoma was 47.5% (29/61), in which exon 19 and 21 mutations accounted for 55.2% of the total number of mutations (16 / 29) and 44.8% (13/29). No mutation was detected in exon 20. Exon 19 mutations occur at codons 746-752, all of which are base-deleted mutations, of six different types. Exon 21 mutations are all at codon 858 substitution mutations. There was no significant correlation between EGFR gene mutation and patient’s gender and age. However, there are significant differences in gene mutations between Kunming and Shanghai. Conclusion: EGFR gene mutation is a tumor-specific somatic genetic change, the incidence of mutations accounts for about half of the total number of lung adenocarcinoma, of which exon 19 and 21 mutations dominated. There are geographical differences in EGFR gene mutation in our country.