Cellular Origins of Endometriosis: Towards Novel Diagnostics and Therapeutics

Caitlin E Filby, Luk Rombauts, Grant W Montgomery, Linda C Giudice, Caroline E Gargett
Seminars in reproductive medicine · 2020 · vol. 38(02/03) , pp. 201–215 · doi:10.1055/s-0040-1713429 · PMID:33176364 · W3100285024
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⚙ AI-generated summary by claude@2026-06, 2026-06-06 ⓘ

This review discusses Sampson's retrograde menstruation hypothesis for endometriosis etiology and phenotypic heterogeneity, proposing single-cell research to advance diagnostics and therapies for this enigmatic disease.

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⚙ AI-generated deep summary by claude@2026-06, 2026-06-06 ⓘ

This paper is a review that examines cellular, physiological, and genomic evidence for Sampson’s retrograde menstruation hypothesis as a cause of pelvic endometriosis and as an explanation for endometriosis phenotypic heterogeneity. It argues that focusing on collaborative single-cell research to identify which cells form lesions, how they reach ectopic sites, and what enables survival and invasion could underpin advances in personalized diagnosis and therapies aimed at distinct endometriosis subtypes, addressing issues such as delayed diagnosis, recurrence, infertility, chronic pelvic pain, and quality of life. The main limitation is that, as a narrative review, it does not present new experimental results and instead synthesizes existing literature while outlining future research directions. This paper is centrally about endometriosis — it reviews cellular origins and evidence supporting retrograde menstruation and proposes single-cell approaches to develop novel diagnostics and therapeutics.

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Abstract

Endometriosis remains an enigmatic disease of unknown etiology, with delayed diagnosis and poor therapeutic options. This review will discuss the cellular, physiological, and genomic evidence of Sampson's hypothesis of retrograde menstruation as a cause of pelvic endometriosis and as the basis of phenotypic heterogeneity of the disease. We postulate that collaborative research at the single cell level focused on unlocking the cellular, physiological, and genomic mechanisms of endometriosis will be accompanied by advances in personalized diagnosis and therapies that target unique subtypes of endometriosis disease. These advances will address the clinical conundrums of endometriosis clinical care-including diagnostic delay, suboptimal treatments, disease recurrence, infertility, chronic pelvic pain, and quality of life. There is an urgent need to improve outcomes for women with endometriosis. To achieve this, it is imperative that we understand which cells form the lesions, how they arrive at distant sites, and what factors govern their ability to survive and invade at ectopic locations. This review proposes new research avenues to address these basic questions of endometriosis pathobiology that will lay the foundations for new diagnostic tools and treatment pathways.

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Condition tags

endometriosischronic_pelvic_paininfertility

MeSH descriptors

Endometriosis Delayed Diagnosis Endometriosis Endometriosis Endometriosis Endometriosis Female Humans Menstruation Disturbances Menstruation Disturbances Stem Cells Stem Cells

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 (100)

Cited by (30)

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