艾森曼格综合征患者EGFR基因突变检测

The Detection of Epidermal Growth Factor Receptor Mutation in Patients with Eisenmenger Syndrome

目的检测艾森曼格综合征患者EGFR基因突变。方法门诊收集23例艾森曼格综合征患者的血浆标本,该23例患者于2008年08月-2015年05曾于我科住院住院治疗,其中动脉导管未闭患者11例,房间隔缺损患者9例,室间隔缺损患者3例。从血浆提取DNA后,经荧光定量PCR法检测EGFR基因。结果 23例艾森曼格综合征患者中共检出EGFR突变2例,检出率约为8%。其中p.L858R突变1例,p.E19-del突变1例。其余20例EGFR均为野生型。结论艾森曼格综合征患者EGFR存在p.L858R、p.E19-del突变。

Objective To detect the mutation of epidermal growth factor receptor（EGFR） in patients with Eisenmenger syndrome（ES）. Methods We collected 23 plasma samples with ES who were hospitalized from August 2008 to may 2015,including 11 patent ductus arteriosus cases,9 atrial septal defect cases and 3 ventricular septal defect cases.Free DNA was isolated from plasma.EGFR gene was detected by fluorescence quantitative PCR. Results Somatic mutations in EGFR gene in plasma were identified from 2 of 23（13%） patients.Among the 2 mutants,1 showed p.L858R mutation and 1 showed p.El9-del mutation. Conclusions p.L858R and p.E19-del gene mutations were found in patients with ES.