Novel insights on the malignant transformation of endometriosis into ovarian carcinoma

Angiolo Gadducci, Nora Lanfredini, Roberta Tana
Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology · 2014 · vol. 30(9) , pp. 612–617 · doi:10.3109/09513590.2014.926325 · PMID:24905724 · W2127683997
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⚙ AI-generated summary by claude@2026-06, 2026-06-07 ⓘ

This study investigated molecular alterations in endometriosis, finding that mutations in CTNNB1, PTEN, ARID1A, and PIK3CA, along with HNF-1b over-expression, are implicated in malignant transformation to ovarian carcinoma.

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Abstract

The malignant transformation of endometriosis is an uncommon event, which happens in 0.7-2.5% of the cases, and, when occurs, it usually involves the ovary. A 2 to 3-fold higher risk of ovarian endometrioid and clear cell carcinoma has been reported in women with endometriosis. Pathological studies have detected a morphological continuum of sequential steps from normal endometriotic cyst epithelium to atypical endometriosis and finally to invasive carcinoma. Ovarian endometrioid carcinoma harbors mutations of CTNNB1 in 16-53.3%, of PTEN in 14-20% and of ARID1A in 30-55% of the cases. Ovarian clear cell carcinoma harbors mutations of PIK3CA in 20-40% and of ARID1 in 15-75% of the cases. Whereas estrogen receptors and progesterone receptors are quite always absent, HNF-1b is often over-expressed in this histotype. Atypical endometriosis and endometriosis-related ovarian neoplasms share molecular alterations, such as PTEN mutations, ARID1A mutations and up-regulation of HNF-1b. Moreover, ARID1A mutations have been noted in clear cell tumors and contiguous atypical endometriosis, but not in distant endometriotic lesions. The loss of BAF250a protein expression is suggestive for the presence of ARID1A mutations, and represents an useful marker of malignant transformation of endometriosis.

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Condition tags

endometriosis

MeSH descriptors

Carcinoma Cell Transformation, Neoplastic Endometriosis Ovarian Neoplasms Carcinoma Endometriosis Female Humans Ovarian Neoplasms

Citation neighborhood

Papers in the corpus that this work cites (lower rings, blue) and that cite this one (upper rings, green). Dot size scales with the paper's in-corpus citation count — bigger dot = more influential within the endo/adeno field. Click a dot to open that paper. [ expand to 2 hops ] — adds papers reached through this work's immediate citers/citees. Heavier; up to 60 extra dots.

References (79)

Cited by (38)

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