ArticleJournal of molecular medicine (Berlin, Germany)2016
Targeted next-generation sequencing for molecular diagnosis of endometriosis-associated ovarian cancer.
Article in Journal of molecular medicine (Berlin, Germany), 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers, 1 of them a synthesis that pooled it.
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Who cites it
37 citing papers in PubMed, 1 synthesis or guideline pooled it, 80 citations in OpenAlex.
- A Systematic Review of Atypical Endometriosis-Associated Biomarkers.International journal of molecular sciences · 2022Pooled it
- Cancer-like Hallmarks of Endometriosis: The Role of Estrogen Signaling and Stem Cell Plasticity.International journal of molecular sciences · 2026Review
- The multifaceted role of RNF213 in oncogenesis: current insights and future research directions.Discover oncology · 2025Review
- Comparing Ovarian Clear Cell Carcinoma and High-Grade Serous Carcinoma Based on the SEER Database and Analyzing the Significantly Mutated Genes.Current cancer drug targets · 2025Article
- Expression characteristics, prognostic value, and immune-related analysis of PPP2R1A in lung adenocarcinoma.Frontiers in immunology · 2025Article
- Genomic alterations in ovarian endometriosis and subsequently diagnosed ovarian carcinoma.Human reproduction (Oxford, England) · 2024Article
- Endometriosis-Associated Ovarian Cancer: From Molecular Pathologies to Clinical Relevance.International journal of molecular sciences · 2024Review
- Endometriosis-Associated Ovarian Carcinomas: How PI3K/AKT/mTOR Pathway Affects Their Pathogenesis.Biomolecules · 2023Review
- Deciphering clinical significance of BCL11A isoforms and protein expression roles in triple-negative breast cancer subtype.Journal of cancer research and clinical oncology · 2023Article
- PDE4DIP contributes to colorectal cancer growth and chemoresistance through modulation of the NF1/RAS signaling axis.Cell death & disease · 2023Article
- A Lifelong Impact on Endometriosis: Pathophysiology and Pharmacological Treatment.International journal of molecular sciences · 2023Review
- The lncRNA LUCAT1 is elevated in inflammatory disease and restrains inflammation by regulating the splicing and stability of NR4A2.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- Review
- PDE4DIP in health and diseases.Cellular signalling · 2022Review
- Correlation of Immunological and Molecular Profiles with Response to Crizotinib in Alveolar Soft Part Sarcoma: An Exploratory Study Related to the EORTC 90101 "CREATE" Trial.International journal of molecular sciences · 2022Article
- The Impact ofPharmacogenomics and personalized medicine · 2022Article
- Identification of CD8Frontiers in genetics · 2022Article
- Article
- Potential Diagnostic Value of the Differential Expression of Histone H3 Variants between Low- and High-Grade Gliomas.Cancers · 2021Article
- Molecular analysis of the erythroid phenotype of a patient with BCL11A haploinsufficiency.Blood advances · 2021Article
Corrections and comments
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Authors and funding
12 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
unlabelledRecent molecular and pathological studies suggest that endometriosis may serve as a precursor of ovarian cancer (endometriosis-associated ovarian cancer, EAOC), especially of the endometrioid and clear cell subtypes. Accordingly, this study had two cardinal aims: first, to obtain mutation profiles of EAOC from Taiwanese patients; and second, to determine whether somatic mutations present in EAOC can be detected in preneoplastic lesions. Formalin-fixed paraffin-embedded (FFPE) tissues were obtained from ten endometriosis patients with malignant transformation. Macrodissection was performed to separate four different types of cells from FFPE sections in six patients. The four types of samples included normal endometrium, ectopic endometriotic lesion, atypical endometriosis, and carcinoma. Ultra-deep (>1000×) targeted sequencing was performed on 409 cancer-related genes to identify pathogenic mutations associated with EAOC. The most frequently mutated genes were PIK3CA (6/10) and ARID1A (5/10). Other recurrently mutated genes included ETS1, MLH1, PRKDC (3/10 each), and AMER1, ARID2, BCL11A, CREBBP, ERBB2, EXT1, FANCD2, MSH6, NF1, NOTCH1, NUMA1, PDE4DIP, PPP2R1A, RNF213, and SYNE1 (2/10 each). Importantly, in five of the six patients, identical somatic mutations were detected in atypical endometriosis and tumor lesions. In two patients, genetic alterations were also detected in ectopic endometriotic lesions, indicating the presence of genetic alterations in preneoplastic lesion. Genetic analysis in preneoplastic lesions may help to identify high-risk patients at early stage of malignant transformation and also shed new light on fundamental aspects of the molecular pathogenesis of EAOC. KEY MESSAGES: Molecular characterization of endometriosis-associated ovarian cancer genes by targeted NGS. Candidate genes predictive of malignant transformation were identified. Chromatin remodeling, PI3K-AKT-mTOR, Notch signaling, and Wnt/β-catenin pathway may promote cell malignant transformation.
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