Molecular analysis suggests oligoclonality and metastasis of endometriosis lesions across anatomically defined subtypes

Praetorius TH, Teresa Praetorius, Teresa H Praetorius, Anna Leonova, Leonova A, А.Б. Леонова, Lac V, Vivian Lac, Senz J, Janine Senz, Basile Tessier-Cloutier, Basile Tessier‐Cloutier, Tessier-Cloutier B, Nazeran TM, Tayyebeh M Nazeran, Martin Köbel, Grube M, Marcel Grube, Bernhard Kraemer, Kraemer B, Paul J Yong, Stefan Kommoss, Kommoss S, Michael S Anglesio
Fertility and sterility · 2022 · vol. 118(3) , pp. 524–534 · doi:10.1016/j.fertnstert.2022.05.030 · PMID:35715244 · W4282924487
article OA: bronze CC0 ⤵ 20 in-corpus citations
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⚙ AI-generated summary by claude@2026-06, 2026-06-08 ⓘ

This molecular analysis examined endometriosis lesions across different anatomical sites and found evidence of oligoclonality and metastatic spread between them.

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Abstract

OBJECTIVE: To investigate the heterogeneity of somatic cancer-driver mutations within patients and across endometriosis types. DESIGN: A single-center cohort, retrospective study. SETTING: Tertiary specialist-care center at a university hospital. PATIENT(S): Patients with surgically and histologically confirmed endometriosis of at least 2 anatomically distinct types (ovarian, deep infiltrating, and superficial). INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Specimens were analyzed for the presence or absence of somatic cancer-driver mutations using targeted panel sequencing with orthogonal validation using droplet digital polymerase chain reaction and mutation-surrogate immunohistochemistry. RESULT(S): It was found that 13 of 27 patients had informative somatic driver mutations in endometriosis lesions; of these 13 patients, 9 had identical mutations across distinct lesions. Endometriomas showed a higher mutational complexity, with functionally redundant driver mutations in the same gene and within the same lesions. CONCLUSION(S): Our data are consistent with clonality across endometriosis lesions, regardless of subtype. Further, the finding of redundancy in mutations within the same gene and lesions is consistent with endometriosis representing an oligoclonal disease with dissemination likely to consist of multiple epithelial clones traveling together. This suggests that the current anatomically defined classification of endometriosis does not fully recognize the etiology of the disease. A novel classification should consider genomic and other molecular features to promote personalized endometriosis diagnosis and care.

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Condition tags

endometriosis

MeSH descriptors

Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis

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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.

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Cited by (23)

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