摘要目的 研究老年非小细胞肺癌(NSCLC)患者表皮生长因子受体(epidermal growth factor receptor,EGFR)基因酪氨酸激酶区19-21外显子的突变状态,并对其临床特征进行初步分析.方法 选取46例病理确诊的老年非小细胞肺癌患者,提取肺癌组织或胸腔积液及心包积液肿瘤细胞基因组DNA,通过巢式PCR基因扩增和直接测序的方法 .分析19、20、21外显子的突变情况,并与其临床特征及应用酪氨酸激酶抑制剂(TKI)疗效的关系进行了初步分析. 结果 46例中,26例检测出带有基因突变(56.5%),其中非沉默突变者为19例(41.3%).19号外显子突变6例(13.0%),20号外显子突变13例(28.2%),21号外显子突变14例(30.4%).其中7例带有2处突变,其余均为单处突变.不吸烟者的突变发生率显著高于吸烟者(P＜0.01).应用酪氨酸激酶抑制剂(TKI)临床获益的患者带有EGFR 19、20、21外显子的基因突变的几率显著高于未获益者(P＜0.05).60～69岁与70～85岁年龄组基因突变状态差异无统计学意义. 结论 老年NSCLC患者EGFR基因酪氨酸激酶区19-21外显子突变特征与肺癌患者总体类似,与年龄关系不大,老年NSCLC患者同样可以通过基因检测获得TKI治疗预测信息.

abstractsObjective To investigate mutations in exons 19, 20 and 21 of epidermal growth factor receptor (EGFR) gene in elderly patients with non-small cell lung cancer (NSCLC). Methods EGFR gene mutations in exons 19, 20 and 21 were detected by nested PCR amplification and DNA sequencing in 46 elderly patients with non-small cell lung cancer. The relationship between mutations and clinical characteristics of these patients was analyzed. Results EGFR gene mutations were found in 56.5% (26/46) patients and 41.3% (19/46)were non-silent mutations. Mutation of exon 19 was detected in 6 cases (13.0%), mutation of exon 20 in 13 cases(28.2%) and that of exon 21 in 14 cases (30.4%). Seven patients among them had double mutations and the rest only had a single mutation. The incidence of EGFR gene mutations was higher in non-smokers than in smokers(P＜ 0.01). Higher EGFR mutation rate in exon 19, 20 and 21 were found in patients with clinical benefit who were treated with tyrosine kinase inhibitor(TKl)(P＜0.05). There was no difference in EGFR mutation rate between 60～69 age group and 70～85 age group. Conclusions The data suggest that the characteristics of EGFR gene mutations in elderly patients with NSCLC is the same as in the general NSCLC patients. The forecast informations of TKI treatment can be obtained by gene detection in elderly NSCLC patients.