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Review
. 2024 Nov 15;14(22):2575.
doi: 10.3390/diagnostics14222575.

Minimally Invasive and Emerging Diagnostic Approaches in Endometrial Cancer: Epigenetic Insights and the Promise of DNA Methylation

Floriana Porcaro  1 , Antonella Paolucci  2 , Piercarmine Porcaro  1 , Gaetano Cardinale  3 , Antonia Romitelli  4 , Domenico Cozzolino  3 , Serena Voccola  5
Affiliations
Review

Minimally Invasive and Emerging Diagnostic Approaches in Endometrial Cancer: Epigenetic Insights and the Promise of DNA Methylation

Floriana Porcaro et al. Diagnostics (Basel). .

Abstract

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.

Keywords: DNA methylation; early cancer detection; endometrial cancer; epigenetic biomarkers; non-invasive diagnostics; obesity-related cancer risk.

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Conflict of interest statement

Authors F.P. and P.P. were employed by Centro Delta S.r.l. Authors G.C. and D.C. were employed by Tecno Bios S.r.l. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. The authors declare that no financial support was received for the research, authorship, and/or publication of this article.

Figures

Figure 1
Figure 1
Emerging epigenetic biomarkers vs. current diagnostic procedures for early detection of endometrial cancer. This figure illustrates a comparison between conventional diagnostic pathways for symptomatic endometrial cancer (EC) and emerging biomarker-based methods for early detection in asymptomatic cases. On the left, non-invasive samples undergo DNA methylation analysis for epigenetic markers. A positive result prompts confirmatory diagnostic procedures, while a negative result suggests routine follow-up. On the right, the traditional diagnostic approach for symptomatic patients begins with transvaginal ultrasound, followed by biopsy if necessary. The integration of epigenetic biomarkers could lead to earlier, less invasive detection, potentially improving outcomes and reducing reliance on invasive procedures. * indicates that a positive result requires the initiation of diagnostic procedures. Different colors indicate different markers.
See this image and copyright information in PMC

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