Background/Objectives: Our study evaluates the performance of the CDO1 and CELF4 methylation assay of cervical scrapings in diagnosing endometrial cancer.Methods: Patients referred for abnormal uterine bleeding, suspected endometrial pathology on imaging, endometrial hyperplasia, or cancer, who were indicated for endometrial sampling +/− hysteroscopy +/− hysterectomy, were recruited prospectively from the gynecology clinic of Prince of Wales Hospital, Hong Kong, from January 2023 to November 2024. Methylation assay was performed on the cervical scrapings of the participants, with the results compared to endometrium histology obtained on the same day.Results: Methylation assay results of 675 patients were compared to 629 outpatient endometrial assessments and 46 hysterectomy histology. The assay yields an accuracy of 97.3%, sensitivity of 84.1%, specificity of 98.8%, PPV of 89.2%, and NPV of 98.2%. The AUC is 0.92 with a Kappa coefficient of 0.85. The false-negative rate was 0.8% among the 629 endometrial assessment cases. Endometrial thickness, abnormal cervical cytology, and endometrial hyperplasia significantly affected the accuracy. Among seven false-positive cases, five had endometrial hyperplasia and two had cervical intraepithelial neoplasia. Eventually, three patients were diagnosed with endometrial cancer and one with cervical cancer 1 to 4 months later.Conclusions: Methylation assay of cervical scrapings is highly accurate in diagnosing endometrial cancer with a high sensitivity, specificity, and low false-negative rate. It can act as a triage to reduce invasive endometrial assessment. All false-positive cases were related to neoplastic processes in the genital tract, indicating that it may be useful for detecting cancer early, before histological change is evident.
背景/目的：本研究评估宫颈刮片CDO1和CELF4基因甲基化检测在诊断子宫内膜癌中的效能。方法：前瞻性纳入2023年1月至2024年11月期间香港威尔斯亲王医院妇科门诊中，因子宫异常出血、影像学怀疑子宫内膜病变、子宫内膜增生或癌症而需行子宫内膜取样±宫腔镜±子宫切除术的患者。对参与者宫颈刮片进行甲基化检测，并将结果与同日获取的子宫内膜组织病理学结果进行对比。结果：共675例患者的甲基化检测结果与629例门诊子宫内膜评估及46例子宫切除组织病理结果进行比对。该检测准确率为97.3%，敏感性84.1%，特异性98.8%，阳性预测值89.2%，阴性预测值98.2%。受试者工作特征曲线下面积为0.92，Kappa系数为0.85。在629例子宫内膜评估病例中，假阴性率为0.8%。子宫内膜厚度、异常宫颈细胞学及子宫内膜增生显著影响检测准确性。7例假阳性病例中，5例存在子宫内膜增生，2例为宫颈上皮内瘤变。后续1-4个月内，其中3例确诊为子宫内膜癌，1例确诊为宫颈癌。结论：宫颈刮片甲基化检测诊断子宫内膜癌具有高准确性、高敏感性、高特异性及低假阴性率的特点，可作为分流手段以减少侵入性子宫内膜评估。所有假阳性病例均与生殖道肿瘤性病变相关，提示该检测可能在组织学改变显现前对早期癌症发现具有重要价值。
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