检测宫颈脱落细胞的抑癌基因MSF1甲基化情况，探讨DNA甲基化检测在分流阴道镜检查中的应用。

选取2019年6月至2020年1月在北京大学首钢医院行阴道镜检查患者100例，其中87例取活检，同时留取宫颈脱落细胞，检测抑癌基因MSF1甲基化情况，分析患者DNA甲基化结果与阴道镜活检病理符合情况。比较宫颈液基细胞学检查（TCT）和人乳头瘤病毒（HPV）联合筛查与DNA甲基化检测对宫颈高级别鳞状上皮内病变（HSIL）及以上病变的预测结果。根据HPV分型将入组患者分层为1组（HPV16/18阳性）和2组（非16/18型HPV阳性），分别统计分析DNA甲基化结果与阴道镜活检病理符合情况。

（1）与金标准阴道镜活检病理对比，DNA甲基化检测对87阴道镜活检患者宫颈疾病的阴性预测值为95.52%，阳性预测值为90.91%，敏感度为90.91%，特异度为95.52%，曲线下面积（AUC）值为0.83（P＜0.05）。（2）在100例阴道镜检查患者中，TCT+HPV联合筛查预测HSIL及以上病变的准确率为33.00%，87例阴道镜活检患者DNA甲基化检测预测HSIL及以上病变准确率为90.91%。（3）HPV16/18阳性组，DNA甲基化检测的阴性预测值为94.74%，阳性预测值为95.83%，敏感度为95.83%，特异度为94.74%，AUC值为0.85（P＜0.05）。非16/18型HPV阳性组，DNA甲基化检测的阴性预测值为95.84%，阳性预测值为77.78%，敏感度为77.78%，特异度为95.84%，AUC值为0.836（P＜0.05）。

DNA甲基化检测与阴道镜活检病理结果有较高的符合率。DNA甲基化检测预测HSIL的准确性远高于TCT联合HPV筛查。对于HPV16/18型感染且DNA甲基化阳性患者提示宫颈高级别病变可能性更大。

To detect the methylation of the tumor suppressor gene MSF1 in the cervical cast-off cells, in order to explore the application of DNA methylation detection in the triage of women undergoing colposcopy.

One hundred patients who underwent colposcopy at Peking University Shougang Hospital from June 2019 to January 2020 were selected, among whom 87 were biopsied. At the same time, cervical exfoliated cells were collected to detect the methylation of the tumor suppressor gene MSF1. The results of DNA methylation and colposcopic biopsy were statistically analyzed. The thinprep cytologic test (TCT) combined with human papilloma virus (HPV) screening was compared with DNA methylation detection for their prediction results for high-grade squamous intraepithelial lesion (HSIL) and above lesions. According to HPV type, the patients were divided into either group 1 (HPV16/18 positive) or group 2 (non-HPV16/18 positive), and the results of DNA methylation and colposcopic biopsy were statistically analyzed.

Compared with the gold standard colposcopic biopsy pathological results, DNA methylation detection in the overall analysis of 87 cases with colposcopic biosy had a negative predictive value of 95.52%, positive predictive value of 90.91%, sensitivity of 90.91%, and specificity of 95.52%, with an AUC value of 0.83 (P＜0.05). The rate of HSIL and above lesions predicted by TCT combined with HPV screening in 100 cases patients with colposcopy was 33.00%. The positive predictive rate of HSIL and above lesions by DNA methylation was 90.91%. In the HPV16/18 positive group, the negative predictive value of DNA methylation test was 94.74%, the positive predictive value was 95.83%, the sensitivity was 95.83%, the specificity was 94.74%, and the AUC was 0.85 (P＜0.05); in the non-16/18 HPV positive group, the corresponding values were 95.84%, 77.78%, 77.78%, 95.84%, and 0.836 (P＜0.05).

There is a high coincidence rate between DNA methylation detection and colposcopy biopsy pathological results. DNA methylation test has a higher accuracy in predicting HSIL than TCT combined with HPV screening. Patients with HPV16/18 infection and positive DNA methylation are more likely to have high-grade cervical lesions.