Loss of ARID1A/BAF250a expression in ovarian endometriosis and clear cell carcinoma
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⤵ 33 in-corpus citations
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This study found that loss of ARID1A/BAF250a expression and other molecular alterations accumulate stepwise from benign endometriosis to atypical endometriosis and clear cell carcinoma.
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Abstract
Ovarian endometriosis has been associated with increased risk for ovarian clear cell carcinoma (CCC). Atypical endometriosis shares common molecular alterations with CCC and therefore, has been proposed as a precursor lesion of CCC, although it is unclear if benign endometriosis is pre-neoplastic. In this study, we examined some molecular alterations in ovarian benign endometriosis, atypical endometriosis, and CCC in comparison to papillary serous carcinoma (PSC). These included BAF250a (encoded by ARID1A), a recently identified major tumor suppressor in ovarian CCC, as well as hepatocyte nuclear factor (HNF)-1b, estrogen receptor (ER), progesterone receptor (PR), and P53. We confirmed that CCC but not PSC had loss of BAF250a expression, HNF-1b up-regulation, loss of ER expression and P53 expression. We further showed that both atypical endometriosis and adjacent CCC had loss of BAF250a expression (38.5% vs. 57.7%), HNF-1b up-regulation (53.8% vs. 92.3%), and loss of ER (84.6% vs. 92.3%) and PR (76.9% vs. 84.6%) expression. Importantly, about 20% of benign ovarian endometriosis had loss of BAF250a expression, 33% with HNF-1b up-regulation, 23% loss of ER expression and 50% loss of PR expression, respectively. The concurrent rate of loss of BAF250a expression, HNF-1b up-regulation, and loss of ER expression was not observed in any benign endometriosis, and was increased to 23.1% in atypical endometriosis, and was further increased to 42.3% in CCC. Therefore, the molecular alterations accumulate in a stepwise manner along the transformation process from benign endometriosis through atypical endometriosis to CCC. These data suggest that a portion of benign ovarian endometriosis has already undergone genetic alterations that lead to aberrant protein expression, possibly conferring a higher risk for malignant transformation.
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Cited by (33)
- New Evidence About Malignant Transformation of Endometriosis-A Systematic Review 2025
- Somatic PTEN and ARID1A loss and endometriosis disease burden: a longitudinal study 2024
- The "Road" to Malignant Transformation from Endometriosis to Endometriosis-Associated Ovarian Cancers (EAOCs): An mTOR-Centred Review 2024
- Factors in malignant transformation of ovarian endometriosis: A narrative review 2024
- Endometriosis-Associated Ovarian Carcinomas: How PI3K/AKT/mTOR Pathway Affects Their Pathogenesis 2023
- Endometriosis Stem Cells as a Possible Main Target for Carcinogenesis of Endometriosis-Associated Ovarian Cancer (EAOC) 2022
- Histopathology and ARID1A Expression in Endometriosis- Associated Ovarian Carcinoma (EAOC) Carcinogenesis Model with Endometrial Autoimplantation and DMBA Induction 2021
- Uterine clear cell carcinoma arising from cystic adenomyosis: a case report 2021
- Endometriose e sua relação com o câncer de ovário: uma revisão integrativa 2021
- Genetics of endometriosis and its association with ovarian cancer 2021
- Different Influences of Endometriosis and Pelvic Inflammatory Disease on the Occurrence of Ovarian Cancer 2021
- Malignant Transformation and Associated Biomarkers of Ovarian Endometriosis: A Narrative Review 2020
- ARID1A protein expression is retained in ovarian endometriosis with ARID1A loss-of-function mutations: implication for the two-hit hypothesis 2020
- Pathogenesis of bowel endometriosis 2020
- Decrease expressions of ARID1A in non-atypical, atypical endometriosis cyst and ovarian clear cell carcinoma as a biomarker of malignancy transformations 2019
- Endometriosis-associated ovarian cancer: What have we learned so far? 2019
- The Endometriotic Tumor Microenvironment in Ovarian Cancer 2018
- Distinguishing the progression of an endometrioma: Benign or malignant? 2018
- Endometriosis and Ovarian Cancer: an Integrative Review (Endometriosis and Ovarian Cancer) 2017
- ARID1A Expression is Down-Regulated by Oxidative Stress in Endometriosis and Endometriosis-Associated Ovarian Cancer 2017
- Effect of ARID1A/BAF250a expression on carcinogenesis and clinicopathological factors in pure-type clear cell adenocarcinoma of the ovary 2016
- Implications of telomeres and telomerase in endometrial pathology 2016
- Evaluation of the Pathogenesis of Tumor Development from Endometriosis by Estrogen Receptor, P53 and Bcl-2 Immunohistochemical Staining 2016
- [Is endometriosis a precancerous lesion? Perspectives and clinical implications] 2016
- ARID1A expression in ovarian clear cell carcinoma with an adenofibromatous component 2015
- Molecular pathogenesis of ovarian clear cell carcinoma 2015
- Integrative Analysis Reveals Regulatory Programs in Endometriosis 2015
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- Tumor Characteristics and Survival Outcome of Endometrial Cancer Arising in Adenomyosis: An Exploratory Analysis 2015
- Novel insights on the malignant transformation of endometriosis into ovarian carcinoma 2014
- Identification of differentially methylated genes in the malignant transformation of ovarian endometriosis 2014
- Cellular, histologic, and molecular changes associated with endometriosis and ovarian cancer 2013
- Immunophenotypic analysis of ovarian endometrioid adenocarcinoma: correlation with KRAS mutation and the presence of endometriosis 2013
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- europepmc
- last seen: 2026-10-13T06:10:10.580696+00:00
- openalex
- last seen: 2026-06-04T00:00:01.174412+00:00
- pubmed
- last seen: 2026-10-08T21:10:53.858194+00:00
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