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

High resolution melting analysis for EGFR mutations in plasma free DNA

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。

Objective To detect EGFR mutations using FFPE tissues and plasma free DNA by HRM analysis and to evaluate its clinical application value. Methods Formalin-fixed paraffin-embedded tissues and plasma 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 obtain tumor tissue specimens in the diagnostic or screening setting.