Molecular Pathways and Biomarkers in Endometrial Carcinoma: Paving the Way for Precision Medicine.

Abstract

Endometrial carcinoma (EC) is one of the most prevalent gynecological malignancies, with an increasing incidence globally. This review explores the role of molecular markers in revolutionizing the diagnosis, prognosis, and management of EC. This article provides an overview of endometrial carcinoma, emphasizing its subtypes and the molecular mechanisms driving disease progression. Current biomarkers, while clinically significant, often present limitations in sensitivity, specificity, and predictive value, necessitating the discovery of novel markers. Recent advances in genetic and epigenetic profiling have identified key mutations, such as PTEN, TP53, and POLE, along with DNA methylation patterns and microRNAs, as crucial contributors to EC pathophysiology. Furthermore, transcriptomic and proteomic studies reveal the potential of RNA-based markers (e.g., lncRNAs, mRNAs) and proteomic signatures in improving early diagnosis and prognostic predictions. Immunohistochemical markers and insights into tumor microenvironment dynamics pave the way for targeted therapeutic strategies. In the context of endometrial carcinoma (EC), clinical trials play a pivotal role in validating targeted therapies based on molecular subtypes and biomarkers, such as HER2 amplification, POLE mutations, and mismatch repair deficiency (MMRd). This review underscores the integration of biomarkers into precision oncology, enabling personalized treatment regimens. However, challenges such as barriers to clinical translation and the need for advanced technologies highlight the importance of continued research in marker discovery for EC.