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BAP1 hereditary cancer predisposition syndrome: a case report and review of literature

A 72-year-old woman was diagnosed with uveal melanoma, peritoneal mesothelioma and a primary biliary tract adenocarcinoma. She had a strong family history of mesothelioma as well as other malignancies including renal cell carcinoma. The recently described BAP1 hereditary cancer predisposition syndro...

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Detalles Bibliográficos
Autores principales: Klebe, Sonja, Driml, Jack, Nasu, Masaki, Pastorino, Sandra, Zangiabadi, Amirmasoud, Henderson, Douglas, Carbone, Michele
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4488956/
https://www.ncbi.nlm.nih.gov/pubmed/26140217
http://dx.doi.org/10.1186/s40364-015-0040-5
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author Klebe, Sonja
Driml, Jack
Nasu, Masaki
Pastorino, Sandra
Zangiabadi, Amirmasoud
Henderson, Douglas
Carbone, Michele
author_facet Klebe, Sonja
Driml, Jack
Nasu, Masaki
Pastorino, Sandra
Zangiabadi, Amirmasoud
Henderson, Douglas
Carbone, Michele
author_sort Klebe, Sonja
collection PubMed
description A 72-year-old woman was diagnosed with uveal melanoma, peritoneal mesothelioma and a primary biliary tract adenocarcinoma. She had a strong family history of mesothelioma as well as other malignancies including renal cell carcinoma. The recently described BAP1 hereditary cancer predisposition syndrome was suspected, but immunohistochemical labeling was not conclusive. Genetic testing confirmed a novel and unusual germline mutation in the ubiquitin hydrolase domain of the BAP1 gene (p.Tyr173Cys) and the patient was diagnosed with the BAP1 hereditary cancer predisposition syndrome. This case demonstrates the importance of clinically recognizing this rare syndrome and its manifestations, some which are still being characterized. It also highlights the importance of genetic testing in cases where there is a high clinical suspicion, even when screening tests, such as immunohistochemistry, in this case, are inconclusive. The diagnosis of a germline BAP1 mutation may have important implications for both the patient and their families with regards to further genetic testing and active surveillance programs. Further research is needed to fully understand the extent and clinical implications of this rare cancer syndrome.
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spelling pubmed-44889562015-07-03 BAP1 hereditary cancer predisposition syndrome: a case report and review of literature Klebe, Sonja Driml, Jack Nasu, Masaki Pastorino, Sandra Zangiabadi, Amirmasoud Henderson, Douglas Carbone, Michele Biomark Res Case Report A 72-year-old woman was diagnosed with uveal melanoma, peritoneal mesothelioma and a primary biliary tract adenocarcinoma. She had a strong family history of mesothelioma as well as other malignancies including renal cell carcinoma. The recently described BAP1 hereditary cancer predisposition syndrome was suspected, but immunohistochemical labeling was not conclusive. Genetic testing confirmed a novel and unusual germline mutation in the ubiquitin hydrolase domain of the BAP1 gene (p.Tyr173Cys) and the patient was diagnosed with the BAP1 hereditary cancer predisposition syndrome. This case demonstrates the importance of clinically recognizing this rare syndrome and its manifestations, some which are still being characterized. It also highlights the importance of genetic testing in cases where there is a high clinical suspicion, even when screening tests, such as immunohistochemistry, in this case, are inconclusive. The diagnosis of a germline BAP1 mutation may have important implications for both the patient and their families with regards to further genetic testing and active surveillance programs. Further research is needed to fully understand the extent and clinical implications of this rare cancer syndrome. BioMed Central 2015-07-02 /pmc/articles/PMC4488956/ /pubmed/26140217 http://dx.doi.org/10.1186/s40364-015-0040-5 Text en © Klebe et al. 2015 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Case Report
Klebe, Sonja
Driml, Jack
Nasu, Masaki
Pastorino, Sandra
Zangiabadi, Amirmasoud
Henderson, Douglas
Carbone, Michele
BAP1 hereditary cancer predisposition syndrome: a case report and review of literature
title BAP1 hereditary cancer predisposition syndrome: a case report and review of literature
title_full BAP1 hereditary cancer predisposition syndrome: a case report and review of literature
title_fullStr BAP1 hereditary cancer predisposition syndrome: a case report and review of literature
title_full_unstemmed BAP1 hereditary cancer predisposition syndrome: a case report and review of literature
title_short BAP1 hereditary cancer predisposition syndrome: a case report and review of literature
title_sort bap1 hereditary cancer predisposition syndrome: a case report and review of literature
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4488956/
https://www.ncbi.nlm.nih.gov/pubmed/26140217
http://dx.doi.org/10.1186/s40364-015-0040-5
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