【摘要】 目的 探讨配对盒基因1(PAX1)甲基化检测在子宫颈细胞学检查结果为不能明确意义的非典型鳞状细胞（ASCUS）患者中的分流意义及临床应用价值。方法 选择2019年8月至2021年7月在山东大学第二医院施行子宫颈薄层液基细胞学（TCT）检查和高危型人乳头瘤病毒（HR-HPV）筛查，其中TCT结果为ASCUS的患者。同时行PAX1甲基化检测并行阴道镜检查，根据阴道镜评估情况，决定是否取子宫颈活检，未取活检视为病变≤子宫颈上皮内瘤变1级（CIN1）。根据病理结果分为正常、CIN1、CIN2、CIN3+组。结果 ASCUS患者中，正常、CIN1、CIN2、CIN3+各组甲基化水平分别为19.91、20.90、19.24、9.47,CIN3+组与正常、CIN1组甲基化水平比较差异具有统计学意义（P<0.05）；当取甲基化水平值为13.625时，PAX1检测ASCUS患者CIN2+的敏感度和特异度分别为0.53、0.94；阴道镜检查评估ASCUS患者CIN2+的敏感度和特异度分别为0.65、0.90；甲基化联合阴道镜检查评估ASCUS患者CIN2+的敏感度和特异度分别为0.82、0.85。结论 PAX1甲基化水平随着子宫颈病变程度的加重而增加，其检测水平有助于早期识别ASCUS患者中CIN2+，尤其CIN3+患者。PAX1甲基化检测辅助阴道镜检查，可以减少ASCUS患者中CIN2+的漏诊。更多还原

【Abstract】 Objective To analyze the shunt significance and clinical value of PAX1 methylation detection in patients with atypical squamous cells of undetermined significance(ASCUS).Methods From Aug. 2019 to Jul. 2021,the women who received thinprep cytologic test(TCT)and high-risk human papillomavirus DNA(HR-HPV DNA)screening in the Second Hospital of Shandong University,and whose TCT result was ASCUS were selected. These patients underwent PAX1 methylation detection and colposcopy at the same time. According to the evaluation of colposcopy,it was decided whether to take cervical biopsy. If no biopsy was taken,it was considered that the lesion was≤cervical intraepithelial neoplasia grade 1(CIN1). They were divided into normal,CIN1,CIN2 and CIN3+ groups according to the pathological results.Results In ASCUS patients,the methylation levels of normal,CIN1,CIN2 and CIN3+ groups were19.91,20.90,19.24 and 9.47,respectively. There was significant difference between CIN3+ group and normal group as well as between CIN3+ group and CIN1 group(P<0.05).When the methylation level was 13.625,the sensitivity and specificity of PAX1 in detecting CIN2 + in ASCUS patients were 0.53 and 0.94.The sensitivity and specificity of colposcopy for CIN2 + in ASCUS patients were 0.65 and 0.90.The sensitivity and specificity of methylation combined with colposcopy in the evaluation of CIN2+ in ASCUS patients were 0.82 and 0.85.Conclusions PAX1 methylation level increases with the aggravation of cervical lesions. Its level is helpful to identify CIN2+ earlier,especially CIN3+ in ASCUS patients.PAX1 methylation detection assisting colposcopy can reduce the missed diagnosis of CIN2 + in ASCUS patients.更多还原