湖南地区肺腺癌EGFR基因突变及突变位点的临床病理特点

目的:研究湖南地区肺腺癌EGFR基因突变及突变位点的临床病理特点。方法:收集中南大学湘雅医院胸外科肺腺癌患者组织标本134例，采用扩增阻滞突变系统(ARMS)检测EGFR外显子18、19、20、21号突变状态。结果:134例肺腺癌患者中EGFR突变68例，突变率50.7%。其中男、女突变率分别为40.7%、58.7%（P=0.039），吸烟、不吸烟患者突变率分别为30.6%、62.4%（P=0.000）。外显子18、19、20、21号突变分别为2例（2.9%）、32例（47.1%）、3例（4.4%）、31例（45.6%）。19、21号外显子突变在肺癌TNM分期中I-II期与III-IV期比较有差异，21号外显子突变在I-II期多见，P=0.048。结论:湖南地区肺腺癌中女性、不吸烟患者EGFR突变率高，EGFR突变以19、21号外显子为主，19与21号外显子突变相比较，21号外显子突变在肺癌TNM分期中I-II期多见。

Clinicopathological characteristics of epidermal growth factor receptor gene mutation and mutantsite of lung adenocarcinomas patients in Hunan China

Objective:To study the clinicopathological characteristics of epidermal growth factor receptor (EGFR）gene mutation and mutantsite of lung adenocarcinomas patients in Hunan China.Methods:All 134 tissue samples of lung adenocarcinomas were analyzed for epidermal growth factor receptor mutations in exons 18，19，20 and 21 using amplification refractory mutation system (ARMS).Collected clinical data and analyzed using SPSS 16.0 software.Results:EGFR mutations were detected in 68 patients among the 134 lung adenocarcinoma patients.The mutation rate was 50.7%.The mutation rates in male and female were 40.7%(24/59)，58.7%(44/75） respectively (P=0.039），smokers and non-smokers mutation rates were 30.6%(15/49)，62.4%(53/85） respectively (P=0.000).The cases of mutation in exon 18，19，20，21 were 2(2.9%)，32(47.1%)，3(4.4%）and 31(45.6%） respectively.There was difference mutation in exon 19 and 21 between stages I-II and III-IV，and the mutation rate of exon 21 was higher than that of exon 19 in stages I-II (P=0.048).Conclusion:EGFR mutation rate is higher in female，non-smokers in lung adenocarcinoma from Hunan China and the most common EGFR mutations are deletions in exon 19 and 21.Meanwhile there is difference for mutation in exon 19 and 21 between I-II and III-IV TNM stage.Compared with mutation in exon 19，the mutation of exon 21 was higher in stages I-II than stages III-IV.