摘要目的 分析比较等位基因特异性寡核苷酸聚合酶链反应( ASO -PCR)和双环探针特异引物荧光PCR (BPSP-qPCR)的表皮生长因子受体(EGFR)基因突变检测敏感性.方法 收集2009年9月至2010年12月在四川大学华西医院病理科留存非小细胞肺癌标本96例,行ASO-PCR检测EGFR突变,其中39例再行BPSP-qPCR检测.结果 ASO-PCR测得突变率为30.2％ (29/96).其中女性高于男性[45.5％ (20/44)比17.3％ (9/52),P=0.003],不吸烟者高于吸烟者[44.1％ (26/59)比8.1％ (3/37),P＜0.001],腺癌高于非腺癌[37.0％ (27/73)比8.7％ (2/23),P=0.01].ASO-PCR检测阴性标本中,具有腺癌和不吸烟特征,BPSP-qPCR检测19-del和L.858R阳性的检出率可提高10.3％ (4/39),BPSP-qPCR检测阳性率明显高于ASO-PCR [ 66.7％( 26/39)比41.0％( 16/39),P=0.02].结论 BPSP-qPCR比ASO-PCR检测EGFR敏感基因突变有更高的敏感性.

abstractsObjective To compare the detection sensitivity of epidermal growth factor receptor (EGFR) mutations between allele specific oligonucleotide PCR(ASO-PCR) and bi-loop probe and specific primer quantitative PCR (BPSP-qPCR).Methods A total of 96 non-small cell lung cancer specimens were selected from West China Hospital from September 2009 to December 2010.ASO-PCR was developed to detect the presence of classical EGFR mutations.A total 39 available specimens were also tested by BPSP- qPCR.Results EGFR mutation detection rate was 30.2％ (26/96) by ASO-PCR.The mutation rate was higher in female than in male patients[45.5％ (20/44) vs.17.3％ (9/52),P =0.003],non-smokers than smokers[ 44.1％ (26/59) vs.8.1％ (3/37),P ＜ 0.001 ] and adenocarcinomas than other subtypes of lung cancer [ 37.0％ ( 27/73 ) vs.8.7％ (2/23),P =0.01 ].Among mutation negative cases by ASO-PCR,BPSP-qPCR increased the rate of detection of 19-del and L858R mutation by 10.3％ (4/39) inadenocarcinomas and non-smoking subset.Overall,the mutation detection rate of BPSP-qPCR was higher than that of ASO-PCR [66.7％ (26/39) vs.41.0％ (16/39),P=0.02].Conclusion BPSP-qPCR has a better detection sensitivity than that of ASO-PCR.