Genomic insights into endometriosis, adenomyosis, and uterine fibroids for the clinician.

PURPOSE OF REVIEW: Over the last few decades, genomics has become integral to understanding disease pathophysiology, improving diagnostics, and refining treatment strategies. Endometriosis, uterine fibroids, and adenomyosis are highly prevalent benign gynecologic disorders characterized by estrogen responsiveness, aberrant tissue growth, and overlapping clinical manifestations. The purpose of this review is to highlight the current genomic understanding of these conditions and their shared and distinct molecular features.

RECENT FINDINGS: Genome-wide association studies and sequencing efforts have identified multiple susceptibility risk loci and somatic mutations associated with uterine fibroids, adenomyosis, and endometriosis. These genetic variants provide insight into the pathogenesis of these conditions. Furthermore, while some genetic overlap between these conditions has been discovered, there are also important molecular distinctions between these diseases.

SUMMARY: Current genomic evidence supports a model in which these diseases share hormonally driven and genetically influenced mechanisms of abnormal tissue growth, but diverge in key somatic events and cellular contexts. Although clinical applications remain limited, continued multiomics research will enable molecular subtyping, targeted therapies, and improved risk stratification.