酶切富集PCR法在非小细胞肺癌患者EGFR基因突变检测中的应用

目的评价酶切富集PCR法在非小细胞肺癌患者EGFR基因突变临床检测中的可行性。方法应用酶切富集PCR及非酶切富集PCR法分析非小细胞肺癌患者EGFR基因突变状况。结果在50份肿瘤组织、55份血浆、15份血清标本中,酶切富集PCR法分别检出EGFR基因突变22例（44.0%）、29例（52.7%）、9例（60.0%）,而非酶切PCR法则仅能检出EG-FR基因突变16例（32.0%）、7例（12.7%）、2例（13.3%）,P=0.216、〈0.001和0.008;应用酶切富集PCR法检测15例配对血浆、组织标本和15例配对血浆、血清标本EGFR基因突变,其检出率无明显差异（53.3%vs 46.7%和66.7%vs 60.0%）。结论酶切富集PCR法适用标本广泛、简便易行,便于临床非小细胞肺癌患者EGFR基因突变筛查。

Application of Mutant-Enriched PCR Assay to Detect Epidermal Growth Factor Receptor Mutations in Patients with Non-small cell lung cancer

Objective To evaluate the clinical feasibility of detection of Epidermal Growth Factor Receptor（EGFR） mutations in the patients with non-small cell lung cancer（NSCLC） by the mutant-enriched PCR assay.Methods The Mutations of exon 19 and 21 in the EGFR gene of tumor tissue、plasma、serum samples were examined using both the mutant-enriched PCR assay and the nested PCR assay without enrichment of the mutants.Results In the 50 tumor tissue,55 plasma,15 serum samples,twenty-two（44.0%）,29（52.7%）,9（60.0%） cases with the EGFR mutation were detected using mutant-enriched PCR assay,but only 16（32.0%）,7（12.7%）,2（13.3%） cases with the EGFR mutation by the nested PCR assay,P=0.216,〈0.001 and 0.008 for plasma,serum,and pleural fluid group respectively.In the 15 paired plasma and serum samples and 15 paired plasma and tumor tissue samples,there were no significant differences in mutation detection rate of EGFR gene among different sample sources（53.3% vs 46.7% and 66.7% vs 60.0%）.Conclusions The mutant-enriched PCR assay maybe a simple and feasible method to detect EGFR mutations in clinic practice.