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Case report: Mesothelioma and BAP1 tumor predisposition syndrome: Implications for public health.

Authors :
Vimercati L
Cavone D
Fortarezza F
Delfino MC
Ficarella R
Gentile A
De Palma A
Marulli G
De Maria L
Caporusso C
Marzullo A
d'Amati A
Romano DE
Caputi A
Sponselli S
Serio G
Pezzuto F
Source :
Frontiers in oncology [Front Oncol] 2022 Aug 04; Vol. 12, pp. 966063. Date of Electronic Publication: 2022 Aug 04 (Print Publication: 2022).
Publication Year :
2022

Abstract

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.<br />Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.<br /> (Copyright © 2022 Vimercati, Cavone, Fortarezza, Delfino, Ficarella, Gentile, De Palma, Marulli, De Maria, Caporusso, Marzullo, d’Amati, Romano, Caputi, Sponselli, Serio and Pezzuto.)

Details

Language :
English
ISSN :
2234-943X
Volume :
12
Database :
MEDLINE
Journal :
Frontiers in oncology
Publication Type :
Academic Journal
Accession number :
35992853
Full Text :
https://doi.org/10.3389/fonc.2022.966063