Predictive factors of endometriosis progression into ovarian cancer

Ján Varga, J Varga, Alžbeta Reviczká, Hedviga Háková, H Haková, Peter Švajdler, Miroslava Rabajdová, A Ostró, Alexander Ostró
Journal of ovarian research · 2022 · vol. 15(1) , pp. 5 · doi:10.1186/s13048-021-00940-8 · PMID:35012617 · PMC8751310 · W4206730020
article OA: gold CC0 ⤵ 14 in-corpus citations
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⚙ AI-generated summary by claude@2026-06, 2026-06-07 ⓘ

This study investigated genetic and histopathological factors in endometriosis progression to ovarian cancer, finding atypical endometriosis and elevated CTNNB1/HIF1A gene expression are predictive markers.

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⚙ AI-generated deep summary by claude@2026-06, 2026-06-07 ⓘ

This study reviewed malignant potential and sought predictive factors for progression of endometriosis into endometriosis-associated ovarian cancer, analyzing 189 participants with prospective cytogenetics plus transcriptional activity measurements of CTNNB1 (β-catenin) and HIF1A (HIF1-α) in 60 endometriosis patients and 50 controls, and retrospective histopathology in 19 EAOC cases and 60 with histologically confirmed endometriosis. Conventional cytogenetics showed structural chromosomal abnormalities in 5 endometriosis patients without phenotype change, and in 6 cancer cases ectopic endometrium was not confirmed, while the remaining EAOC cases included benign/atypical endometriosis or borderline carcinoma; atypical endometriosis was histologically present in 20% of the 60 endometriosis patients. Gene expression separated tumors into transcriptionally incipient and transcriptionally evident subgroups, with higher CTNNB1/HIF1A expression in the evident subgroup (p<0.01) and the incipient subgroup (p<0.05) versus controls, and the authors conclude that Atypical endometriosis is an intermediate lesion and that CTNNB1/HIF1A expression helps allocate higher-risk patients, while noting variability in cytogenetic findings and histologic confirmation of ectopic endometrium as practical caveats. This paper is centrally about endometriosis — it specifically evaluates predictive factors for endometriosis progression into ovarian cancer using cytogenetics and CTNNB1/HIF1A expression.

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Abstract

BACKGROUND: In recent years, the endometriosis has overcome a noteworthy renaissance in the recognition of its potential. In certain patients, a demonstrable malignant progression of ectopic foci leading to development of ovarian cancer is seen. The knowledge of endometriosis overthrow background into endometriosis associated ovarian cancer is of paramount importance for selection of patients at risk. The goal of the presented study was to review a malignant potential of the endometriosis and to specify predictive factors of endometriosis progression into ovarian cancer. Altogether 189 patients were included in the study. Conventional cytogenetics as well as measurement of transcriptional activity of CTNNB1 (β-catenin) and HIF1A (HIF1-α) genes were prospectively studied in 60 endometriosis patients and 50 control group patients. The retrospective histopathological analysis was performed in 19 endometriosis associated ovarian cancer patients and 60 patients with histologically confirmed endometriosis. RESULTS: Five endometriosis patients showed a deviation from normal cytogenetics finding without affecting of their phenotype. In 6 cases of endometriosis associated ovarian cancer ectopic endometrium was not confirmed. The remaining 13 cases demonstrated either benign or atypical endometriosis or even structures of borderline carcinoma. Atypical endometriosis was histologically confirmed in 20% of 60 endometriosis patients. Determination of gene expression (CTNNB1, HIF1A) formed two subgroups. Transcriptionally incipient endometriosis subgroup with insignificant genes expression compared to control group. In transcriptionally evident endometriosis subgroup were genes expressions significantly higher compared to control group (p < 0.01) as well as transcriptionally incipient endometriosis subgroup (p < 0.05). CONCLUSIONS: Significant structural abnormalities of chromosomes are not included in genetic rigging of endometriosis patients. Atypical endometriosis represents a histopathologically detectable intermediate of endometriosis progression. Determination of genes expression CTNNB1 and HIF1A helps to allocate risk patients with endometriosis where more precise management is needed.

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Condition tags

endometriosis

MeSH descriptors

Endometriosis Ovarian Neoplasms Precancerous Conditions Adult beta Catenin beta Catenin Disease Progression Endometriosis Endometriosis Female Humans Hypoxia-Inducible Factor 1, alpha Subunit Hypoxia-Inducible Factor 1, alpha Subunit Middle Aged Ovarian Neoplasms Ovarian Neoplasms Precancerous Conditions Precancerous Conditions Young Adult

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References (33)

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