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目的 检测非小细胞肺癌(NSCLC)患者表皮生长因子受体(EGFR)的突变情况,初步探讨EGFR突变的分布趋势及其与临床病理特征的关系.方法 收集209例NSCLC患者肿瘤组织标本(手术切除组织,肺活检组织),提取DNA,采用ARMS法对EGFR基因的第18、19、20及21号外显子突变情况进行检测,并分析EGFR突变与标本组织类型、患者性别、年龄、病理分级、病理类型等的关系.结果 209例NSCLC患者肺癌组织中,108例(51.67%)存在EGFR的突变.其中,3例(2.78%)18号外显子上发生点突变,51例(47.22%)19号外显子上发生缺失突变,6例(5.56%)20号外显子上发生插入突变和点突变,48例(44.44%)21号外显子上发生点突变.此外,肺手术标本,活检标本中EGFR基因突变率分别为57.34%(82/143),39.39%(26/66)(P=0.016).女性患者EGFR基因突变率73.81%(62/84)高于男性患者36.80%(46/125)(P0.05).腺癌患者EGFR基因突变率54.74%(104/190)明显高于鳞癌患者21.05%(4/19)(P0.05), respectively. Moreover, mutations in adenocarcinoma samples (54.74%, 104/190) were more frequent than that in squamous carcinoma (21.05%, 4/19) (P<0.01). Conclusion EGFR mutations in NSCLC were 51.67%. Exon 19 deletion mutations and exon 21 point mutations are the most frequent in NSCLC. The results may suggest that a larger portion of females and adenocarcinomas. EGFR gene mutation and pathologic types is typically correlated. However, there was not any relationship between the mutations and age and pathological classification.