Metastasis in endometriosis: targeted sequencing suggests non-malignancy associated endometriosis is capable of wide dissemination

Teresa Praetorius, A. Leonova, Vivian Lac, Janine Senz, Basile Tessier‐Cloutier, TM Nazeran, Martin Köebel, Marcel Grube, Bernhard Krämer, P. Yong, Stefan Kommoss, Michael S. Anglesio
In: Geburtshilfe und Frauenheilkunde · 2022 · vol. 82(10) , pp. e143 · doi:10.1055/s-0042-1756999 · W4307890714
article OA: closed CC0
Full text JSON View on OpenAlex View at publisher
⚙ AI-generated summary by claude@2026-06, 2026-06-09 ⓘ

This study used targeted sequencing to investigate intra-patient genetic heterogeneity and clonal relationships across distinct endometriosis lesions within individual patients.

One-sentence paraphrase of the abstract; not a substitute for reading it. No clinical advice. How this works

⚙ AI-generated deep summary by claude@2026-06, 2026-06-10 · read from full text ⓘ

The study investigated whether multiple anatomically separated lesions of different endometriosis subtypes within the same patient share somatic cancer-driver alterations, focusing on intra-patient heterogeneity and clonal relationships. Using high-sensitivity targeted sequencing on 73 endometriosis lesions from 27 patients, with validation by droplet digital PCR and mutation-surrogate immunohistochemistry, the authors found that 13/27 patients had informative somatic driver mutations and that 9/13 showed identical mutations across distinct lesion types. Endometriomas displayed higher mutational complexity, including functionally redundant driver mutations within the same gene, and the authors interpret the pattern as consistent with clonality and oligoclonal dissemination across subtypes. The paper’s caveat is that only a subset of patients yielded informative somatic driver mutations. This paper is centrally about endometriosis—investigating metastasis-like dissemination and clonal relationships across anatomically separated endometriosis lesions using targeted sequencing.

Read from the paper's body, not the abstract. Not a substitute for reading the paper. No clinical advice. How this works

Abstract

Objective Multiple forms of endometriosis have been shown to harbour somatic cancer-driver alterations. Previous studies have focused on the inter-patient heterogeneity of genetic alterations in endometriosis, analyzing lesions collected from the same anatomical types of endometriosis across different patients. The aim of our study was to explore intra-patient heterogeneity and potential clonal relationships of multiple anatomically separated lesions of distinct types of endometriosis within a given patient.
Full text 2,203 characters · extracted from oa-doi-fallback · 4 sections · click to expand

Objective

Multiple forms of endometriosis have been shown to harbour somatic cancer-driver alterations. Previous studies have focused on the inter-patient heterogeneity of genetic alterations in endometriosis, analyzing lesions collected from the same anatomical types of endometriosis across different patients. The aim of our study was to explore intra-patient heterogeneity and potential clonal relationships of multiple anatomically separated lesions of distinct types of endometriosis within a given patient.

Materials and methods

We examined endometriosis lesions of patients with multiple anatomically separated lesions, and each having at least two distinct types of endometriosis. Samples were assayed with a high sensitivity targeted sequencing panel and findings validated with droplet digital PCR and mutation-surrogate immunohistochemistry.

Results

73 endometriosis lesions from 27 patients were analyzed. Results found 13/27 patients had informative somatic driver mutation in endometriosis, of these 9/13 had identical mutations across distinct lesions. Endometriomas showed a higher mutational complexity, with functionally redundant driver mutations within the same gene.

Conclusions

Our data are consistent with clonality across endometriosis lesions regardless of subtype. Further the finding of redundancy in mutations with the same gene and lesions is also consistent with endometriosis representing an oligoclonal disease with dissemination likely to consist of multiple epithelial clones travelling together. This suggests 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. These findings could further contribute to the development of a more personalized endometriosis diagnosis and care. Publication History Article published online: 11 October 2022 © 2022. Thieme. All rights reserved. Georg Thieme Verlag Rüdigerstraße 14, 70469 Stuttgart, Germany

Text is read by the "Ask this paper" AI Q&A widget below. Extraction quality varies by source — PMC NXML preserves structure cleanly, OA-HTML may include some navigation residue, and OA-PDF can have broken hyphenation. The publisher copy (via DOI) is the canonical version.

My notes (saved in your browser only)

⚙ Ask this paper AI returns verbatim quotes from the full text · source: oa-doi-fallback ⓘ

Answers must be backed by verbatim quotes from this paper's full text. Hallucinated quotes are dropped automatically; if no verbatim passage answers the question, we say so. How this works

Condition tags

endometriosis

Citation neighborhood (no data yet)

We don't have any in-corpus citations linked to this paper yet. The paper's references may be in our DB but unresolved to ``paper_id`` (resolution happens at ingest when the cited DOI matches a row we already have). Run the cross-source citation reconcile pass to retry.

Source provenance

openalex
last seen: 2026-06-04T00:00:01.174412+00:00
License: CC0 · commercial use OK