{"title":"BAP1 Tumor Predisposition Syndrome.","authors":"Rossana N Lazcano Segura, Mai P Hoang","doi":"10.1097/PAP.0000000000000507","DOIUrl":null,"url":null,"abstract":"<p><p>BRCA1-associated protein-1 (BAP1) tumor predisposition syndrome is due to germline mutation of BAP1, a tumor suppressor gene. Patients with this syndrome has an increased susceptibility to the development of uveal melanomas, cutaneous melanomas, cutaneous atypical melanocytic lesions, mesotheliomas, clear cell renal cell carcinoma, and other tumors. These syndromic tumors exhibit an aggressive growth and earlier onset in comparison to sporadic tumors. In this review we outline the history, epidemiology, and genetics of this syndrome. The clinical presentation and histopathology of commonly developed tumors in syndromic patients, namely uveal melanomas, cutaneous atypical melanocytic lesions, mesotheliomas, and clear cell renal cell carcinoma are discussed.</p>","PeriodicalId":7305,"journal":{"name":"Advances In Anatomic Pathology","volume":" ","pages":""},"PeriodicalIF":2.6000,"publicationDate":"2025-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Advances In Anatomic Pathology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1097/PAP.0000000000000507","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"PATHOLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
BRCA1-associated protein-1 (BAP1) tumor predisposition syndrome is due to germline mutation of BAP1, a tumor suppressor gene. Patients with this syndrome has an increased susceptibility to the development of uveal melanomas, cutaneous melanomas, cutaneous atypical melanocytic lesions, mesotheliomas, clear cell renal cell carcinoma, and other tumors. These syndromic tumors exhibit an aggressive growth and earlier onset in comparison to sporadic tumors. In this review we outline the history, epidemiology, and genetics of this syndrome. The clinical presentation and histopathology of commonly developed tumors in syndromic patients, namely uveal melanomas, cutaneous atypical melanocytic lesions, mesotheliomas, and clear cell renal cell carcinoma are discussed.
期刊介绍：
Advances in Anatomic Pathology provides targeted coverage of the key developments in anatomic and surgical pathology. It covers subjects ranging from basic morphology to the most advanced molecular biology techniques. The journal selects and efficiently communicates the most important information from recent world literature and offers invaluable assistance in managing the increasing flow of information in pathology.
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