肺腺癌患者血浆及尿中表皮生长因子受体突变研究

Epidermal growth factor receptor mutation detection in plasma and urine samples of patients with advanced lung adenocarcinoma

目的:分析血浆和尿中进行表皮生长因子受体(epidermal growth factor receptor,EGFR)突变检测的可行性。方法:利用改良酚-氯仿方法从血浆和尿中提取DNA,突变富集型PCR技术扩增EGFR外显子19和21,进行基因测序。结果:60例进展期肺腺癌患者中,血浆中检测出12例EGFR突变,其中外显子19缺失突变7例,外显子21点突变5例,尿标本中未检测出突变。血浆EGFR突变与性别相关,与年龄、吸烟史无相关。结论:在进展期肺腺癌患者血浆标本中可检测出EGFR突变,尿标本中未检测出EGFR突变。

Objective：To investigate the epidermal growth factor receptor（EGFR） mutation in plasma and urine samples of patients with advanced lung adenocarcinoma,and to analyze the feasibility of detecting EGFR mutataion in urine.Methods：The plasma and urine cell-free DNA（cfDNA） in 60 patients with advanced lung adenocarcinoma were extracted with modified phenol-chloroform method.Mutant-enriched PCR coupled sequencing of cfDNA was used to detect the EGFR mutation.Results：Among the 60 cases,EGFR mutation was detected in the plasma of 12 cases including 7 deletion mutation in exon 19 and 5 mutation in exon 21,while the result was negative in the urine samples.In the plasma samples,EGFR mutation was correlated with the gender of the patients but not with the age or smoking history.Conclusions：EGFR mutation can be detected in the plasma samples of patients with advanced lung adenocarcinoma but not in the urine samples.