【摘要】 目的:通过检测肺腺癌组织中表皮生长因子受体(EGFR)基因的突变情况,研究EGFR突变与患者临床特征(性别、年龄和吸烟史)的相关性。方法:收集160例肺腺癌患者术前的石蜡组织标本,提取DNA后用实时定量PCR方法对EGFR基因18~21外显子进行突变检测;对基因突变结果与患者的性别、年龄和吸烟史分别做χ2检验。结果:160例肺腺癌组织标本中,有57例检测到EGFR基因突变,突变率为35.6%,且突变与患者性别、年龄和吸烟史均无显著相关性(P>0.05);57例EGFR基因突变标本中,27例为19外显子缺失,22例为21外显子L858R点突变,这2种突变占总突变类型的85.96%,并且与患者性别、年龄及吸烟史无显著相关性(P>0.05)。结论:EGFR基因在女性不吸烟肺腺癌中有较高的突变率,突变主要集中在19外显子缺失和21外显子L858R点突变,但突变率及突变类型与患者性别、年龄和吸烟史均不相关。更多还原

【Abstract】 Objective: To investigate the prevalence of epidermal growth factor receptor(EGFR) gene mutation inChinese patients with lung adenocarcinoma, as well as the relationships between EGFR gene mutation and clinicalfeatures(gender, age, and smoking history) of patients. Methods: 160 formalin-fixed, paraffin-embedded lung ade-nocarcinoma samples were collected before surgical resection, and their genomic DNAs were extracted. EGFR genemutation within exons 18 to 21 were detected by real-time quantitative PCR, and the relationships between EGFR gene mutation and clinical features of patients were analyzed by chi-squared test. Results: EGFR gene mutationwas found in 57 out of 160 lung adenocarcinoma samples, and the mutation frequency was as high as 35.6%.However, EGFR gene mutation was not correlated with gender, age, and smoking history of patients(P>0.05). Fur-ther, exon 19 deletion was found in 27 samples, while L858 R mutation in exon 21 was detected in 22 samples.These two types of mutation accounted for 85.96% of total EGFR gene mutation, and was also not correlated withgender, age, and smoking history of patients(P>0.05). Conclusion: EGFR gene is frequently mutated in femalenon-smoker with lung adenocarcinoma. Exon 19 deletion and L858 R mutation in exon 21 are two major types of EGFR gene mutation. However, EGFR gene mutation status(mutation frequency, types) is not significantly correlat-ed with gender, age, and smoking history of patients.更多还原