The Genetic Jigsaw of Endometrial Polyps

Endometrial polyps are common benign lesions of the uterine cavity characterized by localized overgrowth of endometrial glands, stroma, and vasculature. They are mostly asymptomatic, although in some cases they cause abnormal uterine bleeding and infertility. Increasing evidence indicates that endometrial polyps represent genetically heterogeneous lesions with a multifactorial molecular basis. This review aims to analyze current knowledge on the genetic background of endometrial polyps. For this narrative review article, we searched PubMed and Scopus databases for peer-reviewed research, review articles, and meta-analyses regarding the role of genetics in endometrial polyps, published in the English language with no time restrictions. References of the selected articles for possible additional articles were also screened in order to include most of the key recent evidence. This review highlights the multifactorial genetic landscape underlying the development of endometrial polyps. Current data suggest that these lesions cannot be explained by a single pathogenic mechanism, but rather arise through the interaction of chromosomal changes, somatic and germline genetic variants and dysregulated gene expression. Understanding and integrating these genetic and molecular alterations may improve future diagnostic evaluation, risk stratification, and clinical management of endometrial polyps, although most findings are not yet ready for routine clinical application.