Cargando…
Case report: Mesothelioma and BAP1 tumor predisposition syndrome: Implications for public health
BRCA-1 associated protein 1 (BAP1) tumour predisposition syndrome (TPDS) is a hereditary condition characterised by germline mutation of the tumour suppressor BAP1. This disorder is associated with the development of various benign and malignant tumours, mainly involving the skin, eyes, kidneys, and...
Autores principales: | , , , , , , , , , , , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9386481/ https://www.ncbi.nlm.nih.gov/pubmed/35992853 http://dx.doi.org/10.3389/fonc.2022.966063 |
_version_ | 1784769821135601664 |
---|---|
author | Vimercati, Luigi Cavone, Domenica Fortarezza, Francesco Delfino, Maria Celeste Ficarella, Romina Gentile, Angela De Palma, Angela Marulli, Giuseppe De Maria, Luigi Caporusso, Concetta Marzullo, Andrea d’Amati, Antonio Romano, Daniele Egidio Caputi, Antonio Sponselli, Stefania Serio, Gabriella Pezzuto, Federica |
author_facet | Vimercati, Luigi Cavone, Domenica Fortarezza, Francesco Delfino, Maria Celeste Ficarella, Romina Gentile, Angela De Palma, Angela Marulli, Giuseppe De Maria, Luigi Caporusso, Concetta Marzullo, Andrea d’Amati, Antonio Romano, Daniele Egidio Caputi, Antonio Sponselli, Stefania Serio, Gabriella Pezzuto, Federica |
author_sort | Vimercati, Luigi |
collection | PubMed |
description | BRCA-1 associated protein 1 (BAP1) tumour predisposition syndrome (TPDS) is a hereditary condition characterised by germline mutation of the tumour suppressor BAP1. This disorder is associated with the development of various benign and malignant tumours, mainly involving the skin, eyes, kidneys, and mesothelium. In this article, we report the case of a man recruited through the Apulia (Southern Italy) Mesothelioma Regional Operational Centre of the National Register of Mesotheliomas, who suffered from uveal melanoma, renal cancer, and mesothelioma, and a familial cluster of BAP1 germline mutations demonstrated by molecular analyses. The family members of the proband developed multiple malignancies. As tumours arising in this context have specific peculiarities in terms of clinical behaviour, identification of this condition through appropriate genetic counselling should be considered for adequate primary, secondary, and tertiary prevention measures for offspring. |
format | Online Article Text |
id | pubmed-9386481 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-93864812022-08-19 Case report: Mesothelioma and BAP1 tumor predisposition syndrome: Implications for public health Vimercati, Luigi Cavone, Domenica Fortarezza, Francesco Delfino, Maria Celeste Ficarella, Romina Gentile, Angela De Palma, Angela Marulli, Giuseppe De Maria, Luigi Caporusso, Concetta Marzullo, Andrea d’Amati, Antonio Romano, Daniele Egidio Caputi, Antonio Sponselli, Stefania Serio, Gabriella Pezzuto, Federica Front Oncol Oncology BRCA-1 associated protein 1 (BAP1) tumour predisposition syndrome (TPDS) is a hereditary condition characterised by germline mutation of the tumour suppressor BAP1. This disorder is associated with the development of various benign and malignant tumours, mainly involving the skin, eyes, kidneys, and mesothelium. In this article, we report the case of a man recruited through the Apulia (Southern Italy) Mesothelioma Regional Operational Centre of the National Register of Mesotheliomas, who suffered from uveal melanoma, renal cancer, and mesothelioma, and a familial cluster of BAP1 germline mutations demonstrated by molecular analyses. The family members of the proband developed multiple malignancies. As tumours arising in this context have specific peculiarities in terms of clinical behaviour, identification of this condition through appropriate genetic counselling should be considered for adequate primary, secondary, and tertiary prevention measures for offspring. Frontiers Media S.A. 2022-08-04 /pmc/articles/PMC9386481/ /pubmed/35992853 http://dx.doi.org/10.3389/fonc.2022.966063 Text en Copyright © 2022 Vimercati, Cavone, Fortarezza, Delfino, Ficarella, Gentile, De Palma, Marulli, De Maria, Caporusso, Marzullo, d’Amati, Romano, Caputi, Sponselli, Serio and Pezzuto https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Oncology Vimercati, Luigi Cavone, Domenica Fortarezza, Francesco Delfino, Maria Celeste Ficarella, Romina Gentile, Angela De Palma, Angela Marulli, Giuseppe De Maria, Luigi Caporusso, Concetta Marzullo, Andrea d’Amati, Antonio Romano, Daniele Egidio Caputi, Antonio Sponselli, Stefania Serio, Gabriella Pezzuto, Federica Case report: Mesothelioma and BAP1 tumor predisposition syndrome: Implications for public health |
title | Case report: Mesothelioma and BAP1 tumor predisposition syndrome: Implications for public health |
title_full | Case report: Mesothelioma and BAP1 tumor predisposition syndrome: Implications for public health |
title_fullStr | Case report: Mesothelioma and BAP1 tumor predisposition syndrome: Implications for public health |
title_full_unstemmed | Case report: Mesothelioma and BAP1 tumor predisposition syndrome: Implications for public health |
title_short | Case report: Mesothelioma and BAP1 tumor predisposition syndrome: Implications for public health |
title_sort | case report: mesothelioma and bap1 tumor predisposition syndrome: implications for public health |
topic | Oncology |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9386481/ https://www.ncbi.nlm.nih.gov/pubmed/35992853 http://dx.doi.org/10.3389/fonc.2022.966063 |
work_keys_str_mv | AT vimercatiluigi casereportmesotheliomaandbap1tumorpredispositionsyndromeimplicationsforpublichealth AT cavonedomenica casereportmesotheliomaandbap1tumorpredispositionsyndromeimplicationsforpublichealth AT fortarezzafrancesco casereportmesotheliomaandbap1tumorpredispositionsyndromeimplicationsforpublichealth AT delfinomariaceleste casereportmesotheliomaandbap1tumorpredispositionsyndromeimplicationsforpublichealth AT ficarellaromina casereportmesotheliomaandbap1tumorpredispositionsyndromeimplicationsforpublichealth AT gentileangela casereportmesotheliomaandbap1tumorpredispositionsyndromeimplicationsforpublichealth AT depalmaangela casereportmesotheliomaandbap1tumorpredispositionsyndromeimplicationsforpublichealth AT marulligiuseppe casereportmesotheliomaandbap1tumorpredispositionsyndromeimplicationsforpublichealth AT demarialuigi casereportmesotheliomaandbap1tumorpredispositionsyndromeimplicationsforpublichealth AT caporussoconcetta casereportmesotheliomaandbap1tumorpredispositionsyndromeimplicationsforpublichealth AT marzulloandrea casereportmesotheliomaandbap1tumorpredispositionsyndromeimplicationsforpublichealth AT damatiantonio casereportmesotheliomaandbap1tumorpredispositionsyndromeimplicationsforpublichealth AT romanodanieleegidio casereportmesotheliomaandbap1tumorpredispositionsyndromeimplicationsforpublichealth AT caputiantonio casereportmesotheliomaandbap1tumorpredispositionsyndromeimplicationsforpublichealth AT sponsellistefania casereportmesotheliomaandbap1tumorpredispositionsyndromeimplicationsforpublichealth AT seriogabriella casereportmesotheliomaandbap1tumorpredispositionsyndromeimplicationsforpublichealth AT pezzutofederica casereportmesotheliomaandbap1tumorpredispositionsyndromeimplicationsforpublichealth |