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

被引:3
|
作者
Vimercati, Luigi [1 ]
Cavone, Domenica [1 ]
Fortarezza, Francesco [2 ]
Delfino, Maria Celeste [1 ]
Ficarella, Romina [3 ]
Gentile, Angela [3 ]
De Palma, Angela [4 ]
Marulli, Giuseppe [4 ]
De Maria, Luigi [1 ]
Caporusso, Concetta [5 ]
Marzullo, Andrea [5 ]
d'Amati, Antonio [5 ]
Romano, Daniele Egidio [5 ]
Caputi, Antonio [1 ]
Sponselli, Stefania [1 ]
Serio, Gabriella [5 ]
Pezzuto, Federica [6 ]
机构
[1] Univ Bari Aldo Moro, Interdisciplinary Dept Med, Occupat Med Sect Ramazzini, Bari, Italy
[2] Univ Padua, Univ Hosp Padova, Sch Med & Surg, Dept Med,Pathol Unit, Padua, Italy
[3] ASL Bari, Dept Human Reprod Med, Med Genet Unit, Bari, Italy
[4] Univ Hosp Bari, Dept Emergency & Organ Transplantat, Thorac Surg Unit, Bari, Italy
[5] Univ Bari Aldo Moro, Dept Emergency & Organ Transplantat, Pathol Anat Sect, Bari, Italy
[6] Univ Padua, Dept Cardiac Thorac Vasc Sci & Publ Hlth, Pathol Unit, Padua, Italy
来源
FRONTIERS IN ONCOLOGY | 2022年 / 12卷
关键词
mesothelioma; BAP1; syndrome; familial cluster; genetic screening; public health; epidemiological surveillance; MALIGNANT MESOTHELIOMA; MUTATION; SURVEILLANCE; DIAGNOSIS; ASBESTOS; MELANOMA; CANCER; FAMILY; UVEAL;
D O I
10.3389/fonc.2022.966063
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
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.
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页数:11
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