Hypersensitive Cancer hotspot sequencing panel in patients with two or more subtypes of endometriosis

TH Praetorius, Vivian Lac, Rosalía Aguirre-Hernández, M. Nathan Mason, Basile Tessier‐Cloutier, TM Nazeran, J Khattra, Martin Köebel, Matthias Grube, Miklós Góth, Annette Staebler, J Pasternak, Jürgen Andress, SY Brucker, P. Yong, Bernhard Krämer, Michael S. Anglesio, Stefan Kommoss
In: Geburtshilfe und Frauenheilkunde · 2018 · doi:10.1055/s-0038-1671404 · W2899387107
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⚙ AI-generated summary by claude@2026-06, 2026-06-08 ⓘ

This study investigated somatic cancer-driver mutations within different subtypes of endometriosis to understand the lineage and heterogeneity contributing to diverse clinical presentations and cancer progression potential.

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⚙ AI-generated deep summary by claude@2026-06, 2026-06-08 · read from full text ⓘ

This study investigated genomic heterogeneity across anatomically distinct endometriosis lesions by sequencing 27 patients who had two or more subtypes, using a hypersensitive cancer hotspot panel on macrodissected tissue, with droplet digital PCR validation planned for detected mutations. Mutations in KRAS, NRAS, CTNNB1, EGFR, ERBB2, and PIK3CA were found in 12 of 24 cases; PTEN loss occurred in three cases, while ARID1A loss was not observed. Identical alterations were detected across more than one lesion/type in three cases, suggesting clonal relationships, but the authors note that some lesions were too small for panel sampling, so clonality validation is pending. This paper is centrally about endometriosis — it analyzes cancer-driver hotspot mutations and PTEN/ARID1A surrogate markers across multiple endometriosis subtypes and lesion locations to assess clonal and malignant potential heterogeneity.

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Abstract

The clinical presentation of endometriosis is highly heterogeneous. In a landmark study we have shown somatic cancer-driver mutations in deep infiltrating endometriosis, with at least one case having multiple sites harboring the same driver mutation. Understanding heterogeneity and differences in lineage of endometriosis may help to understand the diversity of clinical presentation and the varying potential of progression to cancer among its subtypes.
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Objectives

The clinical presentation of endometriosis is highly heterogeneous. In a landmark study we have shown somatic cancer-driver mutations in deep infiltrating endometriosis, with at least one case having multiple sites harboring the same driver mutation. Understanding heterogeneity and differences in lineage of endometriosis may help to understand the diversity of clinical presentation and the varying potential of progression to cancer among its subtypes.

Materials and methods

We sampled lesions from 27 patients who presented with two or more subtypes of endometriosis, in anatomically distinct locations. DNA extracted from macrodissected tissue was analyzed using a hypersensitive cancer hotspot sequencing panel. Identified mutations were validated with droplet digital PCR. ARID1A and PTEN immunohistochemistry were performed as surrogates for loss of respective proteins due to somatic events.

Results

Preliminary analysis detected mutations in KRAS, NRAS, CTNNB1, EGFR, ERBB2 and PIK3CA in 12 of 24 cases. Loss of PTEN was observed in three cases; none showed loss of ARID1A. Three cases had identical alterations affecting more than one lesion/type of endometriosis. As some lesions were too small for sampling in our panel, validation of detected mutations by droplet digital PCR is pending to confirm potential clonality between sites and endometriosis types.

Conclusion

While malignant transformation of endometriosis appears restricted to the ovaries, new data suggests that some endometriosis may have the capacity to metastasize. 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.

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endometriosisdie_deep_infiltrating

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