The shifting landscape of genetic alterations separating endometriosis and ovarian endometrioid carcinoma.

Adriana I Gaia-Oltean, Adriana Ioana Gaia‐Oltean, Laura A Pop, Laura Pop, Roxana M Cojocneanu, Roxana Cojocneanu, Mihail Buse, Andreea A Zimta, Paul Kubelac, Alexandru Irimie, Ovidiu F Coza, Ovidiu Coza, Horace Roman, Ioana Berindan‐Neagoe, Ioana Berindan-Neagoe
American journal of cancer research · 2021 · vol. 11(4) , pp. 1754–1769 · PMID:33948387 · PMC8085850 · W3157424854
article OA: green CC0 ⤵ 7 in-corpus citations
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⚙ AI-generated summary by claude@2026-06, 2026-06-07 ⓘ

Hypomethylation, higher tumor differentiation, or higher tumor stage are associated with a poor prognosis in patients with ovarian endometrioid carcinoma.

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⚙ AI-generated deep summary by claude@2026-06, 2026-06-10 ⓘ

This retrospective study analyzed genetic variants and DNA methylation profiles in 50 ovarian endometriosis samples and 20 ovarian endometrioid ovarian carcinoma samples using targeted next-generation sequencing (including BRCA1/2) and methylation/copy-number assessment with MLPA on FFPE and fresh frozen tissues. The authors found shared altered pathways in both groups but also identified group-characteristic mutations, including JAK3, KRAS, and RB1 in endometriosis and ATM, BRAF, CDH1, EGFR, NRAS, RET, and SMO in ovarian endometrioid carcinoma, along with distinct methylation patterns such as MLH3 methylation only in endometrioid carcinoma and several genes highly methylated only in endometriosis (e.g., PYCARD, RARB, IL2, CFTR, CD44, CDH13). A cancer-group correlation was reported between tumor stage, copy number aberrations, metastasis, and BRCA1 pathogenic variants, and the paper also states prognosis associations with GATA2 hypomethylation, ATM hypermethylation, CREM hypomethylation, and higher grade/stage in ovarian endometrioid carcinoma. Limitations include the small endometriosis/carcinoma sample sizes and the restriction to specific targeted gene panels/MLPA loci. This paper is centrally about endometriosis — it directly compares genetic and methylation alterations distinguishing ovarian endometriosis from ovarian endometrioid carcinoma and reports endometriosis-associated molecular signatures.

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Abstract

hypomethylation, higher tumor differentiation degree or higher tumor stage is associated with a poor prognosis in patients with ovarian endometrioid carcinoma.

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endometriosis

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