配对盒家族基因1甲基化定量检测法与DNA倍体分析法在宫颈癌前病变诊断中的对比研究

目的比较PAX1基因甲基化定量检测技术和DNA倍体分析技术在宫颈癌前病变诊断中的临床价值。方法以2012年3月至2014年10月在上海市闵行区中心医院宫颈门诊就医的高危亚型HPV病毒mR—HPv）感染者为研究对象，根据病理学诊断结果，分为组I（正常宫颈）、组II（宫颈鳞状上皮低级别病变）和组III（宫颈鳞状上皮高级别病变）。无创采集所有对象的宫颈上皮脱落细胞，进行PAX1基因甲基化定量检测和DNA倍体定量检测，并与病理学结果进行比较。结果研究共纳入122例患者，组I39例，组II40例，组III43例。以可见或可见少量DNA异倍体细胞为阳性诊断标准时，DNA倍体分析法的灵敏度和特异度分别为88．37％和60．76％；以可见DNA异倍体细胞为阳性诊断标准时，其灵敏度和特异度分别为55．81％和88．61％。PAX1基因甲基化定量均值组I为（4．17±1．93）％，组II为（4．05±2．13）％，组III为（10．95±4．93）％，差异有统计学意义（F=15．02，P〈0．001）。受试者工作曲线（ROC曲线）提示PAX1甲基化定量检测阈值为5．71％，灵敏度为91．73％，特异度为81．97％。结论PAX1基因甲基化定量检测法比DNA倍体分析法具有更高的灵敏度和更为适中的特异度，在宫颈鳞状上皮高级别病变的诊断中具有良好的临床潜力。

Objective To compare the clinical value of quantitative detection of the paired-boxed genel（PAX1） methylation and DNA aneuploidy analysis in patients with cervical precancerous lesions. Methods The patients with high-risk subtypes of HPV virus （HR - HPV） infection from Shanghai Minhang Central Hospital was divided into group I （normal cervix）, group II （low-grade squamous epithelial lesions） and group III （high-grade squamous epithelial lesions） according to the pathology diagnosis. Collect ,cervical epithelial ceils of all the objects for quantitative detection of PAX1 methylation and DNA aneuploidy detection respectively, and compare the results. Results The study comprised a total of 122 patients, including 39 in group I, 40 in group II and 43 in group III. The sensitivity and specificity of DNA aneuploidy analysis were 88.37% and 60.76%, or 55.81% and 88.61% respectively. The percentage of PAX1 methylated reference in group I was（4.17±1.93）%, group II was（4.05±2.13）%, and group III was（10.95±4.93）%. The sensitivity and specificity of PAX1 methylation were 91.73% and 81.97%, while the threshold was 5.71%. Conclusions Quantitative detection of PAX 1 methylation has higher sensitivity and more modest specificity than DNA aneuploidy analysis on clinical diagnosis of cervical pre-cancerous lesions.