高分辨率熔解曲线分析技术检测血清游离DNA的EGFR基因突变

目的利用高分辨率熔解曲线分析技术(high resolution melting,HRM)检测石蜡包埋组织和血清游离DNA的表皮生长因子受体(epidermal growth factor receptor,EGFR)基因突变,分析两者之间的关系,并探讨其临床应用价值。方法利用HRM技术检测EGFR基因突变的方法,检测200例非小细胞肺癌患者石蜡包埋标本和200例相应的血清游离DNA,并将二者结果进行比较分析。结果HRM法检测非小细胞肺癌患者石蜡包埋组织DNA的EGFR基因突变总检出率为43.5%,血清游离DNA的EGFR基因突变总检出率为25.0%,HRM法检测血清游离DNA的EGFR基因突变与检测石蜡包埋组织DNA的EGFR基因突变相比,敏感性为57.5%,特异性为100%。结论 HRM法检测血清游离DNA的EGFR基因突变为无法获取肿瘤组织标本的患者提供了新的检测机会。

High resolution melting analysis for EGFR mutations in plasma free DNA

Objective To detect EGFR mutations using FFPE tissues and plasma free DNA by HRM analy-sis and to evaluate its clinical application value. Methods Formalin-fixed paraffin-embedded tissues and plas-ma free DNA of 200 NSCLC patients were detected by HRM analysis, the results were analyzed and compared accordingly. Results For FFPE tissues, the total EGFR mutation rate was 43. 5% detected by HRM, and for plasma free DNA, the EGFR mutation rate was 25. 0%. The sensitivity of HRM assays in plasma free DNA samples was 57. 5%, the specificity of HRM assays in plasma free DNA samples was 100%. Conclusions HRM for EGFR mutations in plasma free DNA could be accepted as an option for patients who are unable to ob-tain tumor tissue specimens in the diagnostic or screening setting.