Is endometriosis metastasizing? Shared somatic alterations suggest common origins across endometriotic lesions

Teresa Praetorius, Vivian Lac, Basile Tessier‐Cloutier, Tayyebeh M. Nazeran, Martin Köebel, Madeline Mason, Janine Senz, Marcel Grube, Bernhard Krämer, S Brücker, Annette Staebler, Paul J. Yong, Michael S. Anglesio, Stefan Kommoss
In: Geburtshilfe und Frauenheilkunde · 2020 · doi:10.1055/s-0040-1718045 · W3097538259
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This study analyzed distinct endometriotic lesion types and found shared somatic alterations suggesting common clonal origins and dissemination of multiple epithelial clones across lesions in most patients.

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⚙ AI-generated deep summary by claude@2026-07, 2026-07-13 · read from full text ⓘ

This study investigated whether anatomically distinct endometriosis lesion types in the same individuals share a common somatic origin, analyzing endometriosis samples from 27 women who each had multiple separated lesions representing at least two lesion types. Using high-sensitivity targeted sequencing, the authors identified cancer-driver somatic mutations in 13 cases (including KRAS, NRAS, CTNNB1, EGFR, ERBB2, and PIK3CA) and found evidence of clonality between anatomically separate lesions in 8 of 13 cases, with 6 cases showing multiple functionally redundant alterations within a single gene. The authors note a key caveat that their targeted approach provides a specific view of cancer-driver alterations rather than a comprehensive account of endometriosis biology across all mechanisms. This paper is centrally about endometriosis — it tests whether multiple lesion types can be clonal and share somatic origins, with implications for endometriosis classification and malignant potential.

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Abstract

Endometriosis has yielded controversy on whether it constitutes a single disease or distinct types. Current classification systems poorly correlate with the severity of symptoms and do not provide prognostic tools that can guide management or predict recurrence or success of treatment. Our previous work has uncovered recurrent cancer-driver alterations in endometriosis. Here we examined anatomically separate types of endometriosis (ovarian endometriomas, deep infiltrating, and superficial endometriosis) in 27 individual patients for evidence of a common origin. Specimens were analyzed using high-sensitivity targeted sequencing with orthogonal validation from droplet digital PCR and mutation-surrogate immunohistochemistry. Results show clonality between lesions is common (observed in 9/27 cases) and that endometriomas have potential for higher mutational load, often resulting in multiple subclonal lineages. Our data further confirms that endometriosis is generally an oligoclonal disease with dissemination likely to consist of multiple epithelial clones travelling together.
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Objectives

Recent studies have shown that multiple forms of endometriosis harbor somatic cancer-driver alterations. Their ultimate function in the pathobiology of endometriosis still remains unclear. However, somatic alterations provide a useful tool for understanding the etiology of endometriosis. Our analysis seeks to address whether anatomically defined endometriosis types can share a common origin or whether each represents a distinct disease type.

Materials and methods

We examined endometriosis from 27 women with multiple anatomically separated lesions, and each having at least two distinct types of endometriosis. We assayed these samples with a high sensitivity targeted sequencing panel and validated findings using droplet digital PCR and mutation-surrogate IHC.

Results

We studied 73 endometriosis lesions from 27 women and were able to identify somatic cancer driver mutations in 13 cases including alterations in KRAS, NRAS, CTNNB1, EGFR, ERBB2 and PIK3CA. The identified alterations suggest clonality between anatomically separate endometriotic lesions in 8 of 13 cases. In 6 cases our analysis revealed multiple apparently functionally redundant mutations within one gene.

Conclusions

Our results suggest clonality between lesions is not uncommon, and site/microenvironment is likely to have a strong influence on the clinical presentation of endometriosis and its malignant potential. Complex redundant alterations suggest multiple lineages and that dissemination is likely to be composed of multiple cells travelling together. Furthermore, our findings suggest that the current anatomically defined classification of endometriosis is not consistent with the etiology of the disease and should be adjusted, taking into account genomic and other molecular markers. Publication History Article published online: 07 October 2020 © 2020. Thieme. All rights reserved. Rüdigerstraße 14, 70469 Stuttgart, Germany

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Condition tags

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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