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

Michelle DenAdel, DenAdel M, Hamilton C, Caitlin Hamilton, Angela Frankel, Frankel A, DenAdel A, Alan DenAdel, Dahlman M, Marisa Dahlman, M. Dahlman
Current opinion in obstetrics & gynecology · 2026 · vol. 38(4) , pp. 250–260 · doi:10.1097/gco.0000000000001109 · PMID:42095686 · W7160520944
review OA: closed public-domain-us
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Genomic studies reveal shared and distinct molecular features of endometriosis, adenomyosis, and uterine fibroids, highlighting hormonally driven and genetically influenced mechanisms of abnormal tissue growth.

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Abstract

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.
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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.

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Condition tags

endometriosisadenomyosis

MeSH descriptors

Adenomyosis Adenomyosis Adenomyosis Adenomyosis Adenomyosis Adenomyosis Adenomyosis Adenomyosis Adenomyosis Adenomyosis Adenomyosis Adenomyosis Adenomyosis Adenomyosis Adenomyosis Adenomyosis Adenomyosis Adenomyosis Adenomyosis Adenomyosis

Citation neighborhood

Papers in the corpus that this work cites (lower rings, blue) and that cite this one (upper rings, green). Dot size scales with the paper's in-corpus citation count — bigger dot = more influential within the endo/adeno field. Click a dot to open that paper. [ expand to 2 hops ] — adds papers reached through this work's immediate citers/citees. Heavier; up to 60 extra dots.

References (78)

SciLite annotations

chemicals 1
estrogen

Source provenance

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