ArticleJournal of translational medicine2015
BAP1 mutation is a frequent somatic event in peritoneal malignant mesothelioma.
Article in Journal of translational medicine, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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Who cites it
31 citing papers in PubMed, 85 citations in OpenAlex.
- Clinicopathological and molecular characteristics of rare ovarian sex cord stromal tumors with BAP1 mutation.Virchows Archiv : an international journal of pathology · 2026Article
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- Advances in the management of peritoneal malignancies.Nature reviews. Clinical oncology · 2022Review
- EWSR1::YY1 fusion positive peritoneal epithelioid mesothelioma harbors mesothelioma epigenetic signature: Report of 3 cases in support of an emerging entity.Genes, chromosomes & cancer · 2022Article
- Molecular Pathways in Peritoneal Mesothelioma: A Minireview of New Insights.Frontiers in oncology · 2022Review
- BRCA-associated protein 1 (BAP1) and miR-31 combination predicts outcomes in epithelioid malignant pleural mesothelioma.Journal of thoracic disease · 2021Article
- The Role of Hyperthermic Intraperitoneal Chemotherapy for Non-colorectal Peritoneal Surface Malignancies.Journal of gastrointestinal surgery : official journal of the Society for Surgery of the Alimentary Tract · 2021Review
- Pediatric Peritoneal Epithelial Malignant Mesothelioma Case Report.Case reports in radiology · 2021Article
- Molecular characterization of diffuse malignant peritoneal mesothelioma.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2020Article
- Mutational Profile of Malignant Pleural Mesothelioma (MPM) in the Phase II RAMES Study.Cancers · 2020Article
- Fluorescence in situ hybridization (FISH) provides estimates of minute and interstitial BAP1, CDKN2A, and NF2 gene deletions in peritoneal mesothelioma.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2020Article
- Apatinib Mesylate Inhibits the Proliferation and Metastasis of Epithelioid Malignant Peritoneal MesotheliomaFrontiers in oncology · 2020Article
- Malignant Peritoneal Mesothelioma: Patterns of Care and Survival in the Netherlands: A Population-Based Study.Annals of surgical oncology · 2019Article
- BAP1 haploinsufficiency predicts a distinct immunogenic class of malignant peritoneal mesothelioma.Genome medicine · 2019Article
- Well-differentiated papillary mesothelioma of the peritoneum is genetically defined by mutually exclusive mutations in TRAF7 and CDC42.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2019Article
- First case report of malignant peritoneal mesothelioma and oral verrucous carcinoma in a patient with a germline PTEN mutation: a combination of extremely rare diseases with probable further implications.BMC medical genetics · 2018Article
- Mutational Profiling of Malignant Mesothelioma Revealed Potential Therapeutic Targets in EGFR and NRAS.Translational oncology · 2018Article
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Authors and funding
9 authors at 4 institutions in 2 countries.
Funding
Abstract
backgroundMalignant mesothelioma (MM) arises from mesothelial cells that line the pleural, peritoneal and pericardial surfaces. The majority of MMs are pleural and have been associated with asbestos exposure. Previously, pleural MMs have been genetically characterized by the loss of BAP1 (40-60%) as well as loss of NF2 (75%) and CDKN2A (60%). The rare peritoneal form of MM occurs in ~10% cases. With only ~300 cases diagnosed in the US per year, its link to asbestos exposure is not clear and its mutational landscape unknown.
methodsWe analyzed the somatic mutational landscape of 12 peritoneal MM of epitheloid subtype using copy number analysis (N = 9), whole exome sequencing (N = 7) and targeted sequencing (N = 12).
resultsPeritoneal MM display few copy number alterations, with most samples having less than 10 Mbp total changes, mostly through deletions and no high copy number amplification. Chromosome band 3p21 encoding BAP1 is the most recurrently deleted region (5/9), while, in contrast to pleural MM, NF2 and CDKN2A are not affected. We further identified 87 non-silent mutations across 7 sequenced tumors, with a median of 8 mutated genes per tumor, resulting in a very low mutation rate (median 1.3 10(-6)). BAP1 was the only recurrently mutated gene (N = 3/7). In one additional case, loss of the entire chromosome 3 leaves a non-functional copy of BAP1 carrying a rare nonsense germline variant, thus suggesting a potential genetic predisposition in this patient. Finally, with targeted sequencing of BAP1 in 3 additional cases, we conclude that BAP1 is frequently altered through copy number losses (N = 3/12), mutations (N = 3/12) or both (N = 2/12) sometimes at a sub-clonal level.
conclusionOur findings suggest a major role for BAP1 in peritoneal MM susceptibility and oncogenesis and indicate important molecular differences to pleural MM as well as potential strategies for therapy and prevention.
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