Iatrogenic endometriosis harbors somatic cancer-driver mutations

Vivian Lac, TH Praetorius, Lisanne Verhoef, Rosalía Aguirre-Hernández, TM Nazeran, Basile Tessier‐Cloutier, Natasha L. Orr, Heather Noga, J Khattra, Martin Köebel, HM Horlings, F. Kommoss, SY Brucker, J Pasternak, P. Yong, DG Huntsman, Stefan Kommoss, Michael S. Anglesio, Bernhard Krämer
In: Geburtshilfe und Frauenheilkunde · 2018 · doi:10.1055/s-0038-1671405 · W2899303935
article OA: closed CC0 ⤵ 10 in-corpus citations
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⚙ AI-generated summary by claude@2026-06, 2026-06-07 ⓘ

This study examined incisional endometriosis and found that it harbors somatic cancer-driver mutations, similar to deep infiltrating endometriosis.

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⚙ AI-generated deep summary by claude@2026-06, 2026-06-07 · read from full text ⓘ

The study investigated whether iatrogenic endometriosis, specifically incisional endometriosis (IE), and deep infiltrating endometriosis (DE) contain somatic cancer-driver mutations by macrodissecting archival specimens from 40 women with IE and 36 with DE and using a hypersensitive cancer hotspot sequencing panel with droplet digital PCR validation. Somatic cancer-driver events were found in 27.5% of IE and 38.9% of DE cases, with hotspot mutations reported in KRAS, ERBB2, PIK3CA, and CTNNB1. PTEN loss occurred at similar heterogeneous rates in both groups, while ARID1A loss was observed only in one DE case. The paper limits its scope to forms of endometriosis considered unlikely to transform and does not assess eutopic endometrium or endometriomas directly. This paper is centrally about endometriosis — it shows somatic cancer-driver mutations in iatrogenic (incisional) and deep infiltrating endometriosis.

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Abstract

Endometriosis is a common gynecological disease and precursor of clear cell and endometrioid ovarian carcinomas. We recently demonstrated that one form of endometriosis with little malignant potential, deep infiltrating endometriosis (DE), harbours recurrent somatic cancer-driver mutations. The prevalence of these mutations in other forms of endometriosis is not known. We sought to investigate this by examining other forms of endometriosis unlikely to undergo transformation. Particularly, we examined an iatrogenic form of endometriosis (incisional endometriosis; IE) where the uterine origin of cells is well accepted.
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Objectives

Endometriosis is a common gynecological disease and precursor of clear cell and endometrioid ovarian carcinomas. We recently demonstrated that one form of endometriosis with little malignant potential, deep infiltrating endometriosis (DE), harbours recurrent somatic cancer-driver mutations. The prevalence of these mutations in other forms of endometriosis is not known. We sought to investigate this by examining other forms of endometriosis unlikely to undergo transformation. Particularly, we examined an iatrogenic form of endometriosis (incisional endometriosis; IE) where the uterine origin of cells is well accepted.

Materials and methods

Endometriosis specimens were macrodissected from archival tissue collected from 40 women with IE and 36 women with DE. A hypersensitive cancer hotspot sequencing panel was used to identify mutations, which were validated using droplet digital PCR. PTEN and ARID1A immunohistochemistry were performed as surrogates for somatic events resulting in functional loss of respective proteins.

Results

Somatic cancer-driver events were detected in 27.5% IE cases and 38.9% DE cases, including hotspot mutations in KRAS, ERBB2, PIK3CA, and CTNNB1. Heterogeneous PTEN loss occurred at similar rates in IE and DE (6/40 versus 5/36 respectively), whereas ARID1A loss only occurred in one DE case.

Conclusions

Despite differing mechanisms of dissemination, somatic cancer-driver events are a common feature of IE and DE. These alterations affected components of the MAPK/RAS or PI3K-Akt-mTOR pathways, which may be important in the growth and survival of endometriosis ectopically. Examination of similar somatic events in eutopic endometrium and other forms of endometriosis, in particular endometriomas (commonly linked to malignancy) are warranted.

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Condition tags

endometriosisdie_deep_infiltrating

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