Porcaro Floriana, Paolucci Antonella, Porcaro Piercarmine, Cardinale Gaetano, Romitelli Antonia, Cozzolino Domenico, Voccola Serena
Centro Medico Delta S.r.l., 82030 Apollosa, Italy.
Centro Prevenzione Donna, 05100 Terni, Italy.
Diagnostics (Basel). 2024 Nov 15;14(22):2575. doi: 10.3390/diagnostics14222575.
Endometrial cancer (EC) is the most common gynecological malignancy, with rising incidence and mortality rates. Key risk factors, including obesity, prolonged estrogen exposure, and metabolic disorders, underscore the urgent need for non-invasive, early diagnostic tools. This review focuses on the role of DNA methylation as a potential biomarker for early EC detection. Aberrant DNA methylation in the promoter regions of tumor suppressor genes can lead to gene silencing and cancer progression. We examine recent studies utilizing minimally invasive samples, such as urine, cervicovaginal, and cervical scrapes, to detect early-stage EC through DNA methylation patterns. Markers such as RASSF1A, HIST1H4F, GHSR, SST, and ZIC1 have demonstrated high diagnostic accuracy, with AUC values up to 0.95, effectively distinguishing EC from non-cancerous conditions. This review highlights the potential of DNA methylation-based testing as a non-invasive alternative to traditional diagnostic methods, offering earlier detection, better risk stratification, and more personalized treatment plans. These innovations hold the promise of transforming clinical practice by enabling more timely and effective management of endometrial cancer.
子宫内膜癌（EC）是最常见的妇科恶性肿瘤，其发病率和死亡率呈上升趋势。包括肥胖、雌激素长期暴露和代谢紊乱在内的关键风险因素，凸显了对非侵入性早期诊断工具的迫切需求。本综述重点关注DNA甲基化作为早期子宫内膜癌检测潜在生物标志物的作用。肿瘤抑制基因启动子区域的异常DNA甲基化可导致基因沉默和癌症进展。我们研究了最近利用尿液、宫颈阴道和宫颈刮片等微创样本，通过DNA甲基化模式检测早期子宫内膜癌的研究。RASSF1A、HIST1H4F、GHSR、SST和ZIC1等标志物已显示出较高的诊断准确性，AUC值高达0.95，能有效区分子宫内膜癌与非癌性疾病。本综述强调了基于DNA甲基化检测作为传统诊断方法的非侵入性替代方法的潜力，可实现更早检测、更好的风险分层和更个性化的治疗方案。这些创新有望通过更及时有效地管理子宫内膜癌来改变临床实践。
