The incidence of endometrial cancer is rising, and current diagnostics often require invasive biopsy procedures. Urine may offer an alternative sample type, which is easily accessible and allows repetitive self-sampling at home. Here, we set out to investigate the feasibility of endometrial cancer detection in urine using DNA methylation analysis. Urine samples of endometrial cancer patients (n = 42) and healthy controls (n = 46) were separated into three fractions (full void urine, urine sediment, and urine supernatant) and tested for three DNA methylation markers (GHSR, SST, ZIC1). Strong to very strong correlations (r = 0.77–0.92) were found amongst the different urine fractions. All DNA methylation markers showed increased methylation levels in patients as compared to controls, in all urine fractions. The highest diagnostic potential for endometrial cancer detection in urine was found in full void urine, with area under the receiver operating characteristic curve values ranging from 0.86 to 0.95. This feasibility study demonstrates, for the first time, that DNA methylation analysis in urine could provide a non-invasive alternative for the detection of endometrial cancer. Further investigation is warranted to validate its clinical usefulness. Potential applications of this diagnostic approach include the screening of asymptomatic women, triaging women with postmenopausal bleeding symptoms, and monitoring women with increased endometrial cancer risk.

中文翻译：

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尿液DNA甲基化分析无创检测子宫内膜癌

子宫内膜癌的发病率正在上升，目前的诊断通常需要侵入性活检程序。尿液可能会提供另一种样本类型，该类型易于获取并允许在家中重复自我采样。在这里，我们着手研究使用 DNA 甲基化分析检测尿液中子宫内膜癌的可行性。子宫内膜癌患者 (n = 42) 和健康对照 (n = 46) 的尿液样本被分成三个部分（全尿、尿沉渣和尿上清液），并测试三个 DNA 甲基化标志物（GHSR、SST、ZIC1） . 在不同的尿液组分之间发现了很强的相关性（r = 0.77-0.92）。在所有尿液组分中，与对照组相比，所有 DNA 甲基化标志物均显示患者的甲基化水平增加。尿液中子宫内膜癌检测的最高诊断潜力在完全无效的尿液中发现，受试者工作特征曲线下的面积值范围为 0.86 至 0.95。这项可行性研究首次表明，尿液中的 DNA 甲基化分析可以为检测子宫内膜癌提供一种非侵入性的替代方法。需要进一步研究以验证其临床实用性。这种诊断方法的潜在应用包括筛查无症状女性、对有绝经后出血症状的女性进行分类，以及监测子宫内膜癌风险增加的女性。尿液中的 DNA 甲基化分析首次可以为检测子宫内膜癌提供一种非侵入性的替代方法。需要进一步研究以验证其临床实用性。这种诊断方法的潜在应用包括筛查无症状女性、对有绝经后出血症状的女性进行分类，以及监测子宫内膜癌风险增加的女性。尿液中的 DNA 甲基化分析首次可以为检测子宫内膜癌提供一种非侵入性的替代方法。需要进一步研究以验证其临床实用性。这种诊断方法的潜在应用包括筛查无症状女性、对有绝经后出血症状的女性进行分类，以及监测子宫内膜癌风险增加的女性。