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

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.

BRCA1‐associated protein 1: Tumor predisposition syndrome and Kury‐Isidor syndrome, from genotype–phenotype correlation to clinical management

“…Individuals with TPDS1 and malignant pleural mesothelioma exhibit distinctive characteristics, setting them apart from those with sporadic mesothelioma. In summary, these patients are often younger, present more advanced disease, and have less or no asbestos exposure, yet demonstrate increased survival compared to sporadic cases 25,26 . The presence of a BAP1 pathogenic variant can serve as a target for immunotherapy or targeted therapies, potentially improving survival rates 11,27 .…”

“…In summary, these patients are often younger, present more advanced disease, and have less or no asbestos exposure, yet demonstrate increased survival compared to sporadic cases. 25,26 The presence of a BAP1 pathogenic variant can serve as a target for immunotherapy or targeted therapies, potentially improving survival rates. 11,27 Due to these unique characteristics, specific screening criteria have been proposed to identify potential BAP1-TPDS1 patients (Table 2).…”

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

“…Vimercati and colleagues ( 1 ) suspected a BAP1 Tumor Predisposition Syndrome (BAP1-TPDS) based on the clinical findings and the patient’s family history. A genetic analysis was conducted on the patient and his son, affected with colon adenocarcinoma.…”

“…Regarding the histology, on the pathological specimens, a definitive diagnosis of biphasic mesothelioma was made, while mesotheliomas related to BAP1-TPDS are almost exclusively epithelioid type ( 1 ), which are less aggressive and are associated with a slightly better prognosis. On a minor note, we would like to point out that the descriptions of Figures 3 and 4 ( 1 ) are inverted in the text and may generate confusion.…”

“…In this context, it seems to be clear the role of genetic analysis in families where a potentially disease-causing BAP1 variant has been suspected. In this context, we read with great interest the article of Vimercati and colleagues ( 1 ), who described a case of pleural mesothelioma (PM) in an 83-year-old man, with a story of environmental and working story of asbestos exposure, suspect for BAP1 tumor predisposition syndrome (BAP1-TPDS). Familial history was investigated and specific genetic tests were performed.…”