Lee Ho-Sze Jacqueline, Wu Shiye, Yeung Suet-Ying, Cheung Chun-Wai, Fung Wen-Ying Linda, Kwok Pui-Kei Sonia, Yung Kar-Kei, Wong Tsz-Kei Sani, Kanneganti Abhiram, Lau Tat-San
Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong, China.
Department of Obstetrics and Gynaecology, National University Hospital, Singapore 119228, Singapore.
Cancers (Basel). 2025 Sep 15;17(18):3010. doi: 10.3390/cancers17183010.
: Our study evaluates the performance of the CDO1 and CELF4 methylation assay of cervical scrapings in diagnosing endometrial cancer. : 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. : 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. : 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.
我们的研究评估了宫颈刮片的CDO1和CELF4甲基化检测在诊断子宫内膜癌方面的性能。2023年1月至2024年11月期间，前瞻性招募了因子宫异常出血、影像学检查怀疑子宫内膜病变、子宫内膜增生或癌症而被建议进行子宫内膜取样（±宫腔镜检查±子宫切除术）的患者，这些患者来自香港威尔士亲王医院妇科门诊。对参与者的宫颈刮片进行甲基化检测，并将结果与同一天获得的子宫内膜组织学结果进行比较。将675例患者的甲基化检测结果与629例门诊子宫内膜评估结果和46例子宫切除组织学结果进行比较。该检测的准确率为97.3%，灵敏度为84.1%，特异性为98.8%，阳性预测值为89.2%，阴性预测值为98.2%。曲线下面积为0.92，卡帕系数为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、宫颈细胞学异常和子宫内膜增生显著影响准确率。在7例假阳性病例中，5例有子宫内膜增生，2例有宫颈上皮内瘤变。最终，3例患者在1至4个月后被诊断为子宫内膜癌，1例被诊断为宫颈癌。宫颈刮片甲基化检测在诊断子宫内膜癌方面具有高度准确性，灵敏度高、特异性强且假阴性率低。它可作为一种分流手段，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有关，这表明在组织学变化明显之前，它可能有助于早期检测癌症。
