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Medical and Surgical Care of Patients With Mesothelioma and Their Relatives Carrying Germline BAP1 Mutations.

ABSTRACT: The most common malignancies that develop in carriers of BAP1 germline mutations include diffuse malignant mesothelioma, uveal and cutaneous melanoma, renal cell carcinoma, and less frequently, breast cancer, several types of skin carcinomas, and other tumor types. Mesotheliomas in these patients are significantly less aggressive, and patients require a multidisciplinary approach that involves genetic counseling, medical genetics, pathology, surgical, medical, and radiation oncology expertise. Some BAP1 carriers have asymptomatic mesothelioma that can be followed by close clinical observation without apparent adverse outcomes: they may survive many years without therapy. Others may grow aggressively but very often respond to therapy. Detecting BAP1 germline mutations has, therefore, substantial medical, social, and economic impact. Close monitoring of these patients and their relatives is expected to result in prolonged life expectancy, improved quality of life, and being cost-effective. The co-authors of this paper are those who have published the vast majority of cases of mesothelioma occurring in patients carrying inactivating germline BAP1 mutations and who have studied the families affected by the BAP1 cancer syndrome for many years. This paper reports our experience. It is intended to be a source of information for all physicians who care for patients carrying germline BAP1 mutations. We discuss the clinical presentation, diagnostic and treatment challenges, and our recommendations of how to best care for these patients and their family members, including the potential economic and psychosocial impact.

SUBMITTER: Carbone M

PROVIDER: S-EPMC9233126 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature

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Medical and Surgical Care of Patients With Mesothelioma and Their Relatives Carrying Germline BAP1 Mutations.

Carbone Michele M Pass Harvey I HI Ak Guntulu G Alexander H Richard HR Baas Paul P Baumann Francine F Blakely Andrew M AM Bueno Raphael R Bzura Aleksandra A Cardillo Giuseppe G Churpek Jane E JE Dianzani Irma I De Rienzo Assunta A Emi Mitsuru M Emri Salih S Felley-Bosco Emanuela E Fennell Dean A DA Flores Raja M RM Grosso Federica F Hayward Nicholas K NK Hesdorffer Mary M Hoang Chuong D CD Johansson Peter A PA Kindler Hedy L HL Kittaneh Muaiad M Krausz Thomas T Mansfield Aaron A Metintas Muzaffer M Minaai Michael M Mutti Luciano L Nielsen Maartje M O'Byrne Kenneth K Opitz Isabelle I Pastorino Sandra S Pentimalli Francesca F de Perrot Marc M Pritchard Antonia A Ripley Robert Taylor RT Robinson Bruce B Rusch Valerie V Taioli Emanuela E Takinishi Yasutaka Y Tanji Mika M Tsao Anne S AS Tuncer A Murat AM Walpole Sebastian S Wolf Andrea A Yang Haining H Yoshikawa Yoshie Y Zolondick Alicia A Schrump David S DS Hassan Raffit R

Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer 20220421 7

The most common malignancies that develop in carriers of BAP1 germline mutations include diffuse malignant mesothelioma, uveal and cutaneous melanoma, renal cell carcinoma, and less frequently, breast cancer, several types of skin carcinomas, and other tumor types. Mesotheliomas in these patients are significantly less aggressive, and patients require a multidisciplinary approach that involves genetic counseling, medical genetics, pathology, surgical, medical, and radiation oncology expertise. S ...[more]

PMID: 35462085

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Project description:BackgroundThe BRCA1-associated protein-1 (BAP1) tumor predisposition syndrome (BAP1-TPDS) is a hereditary tumor syndrome caused by germline pathogenic variants in BAP1 encoding a tumor suppressor associated with uveal melanoma, mesothelioma, cutaneous melanoma, renal cell carcinoma, and cutaneous BAP1-inactivated melanocytic tumors. However, the full spectrum of tumors associated with the syndrome is yet to be determined. Improved understanding of the BAP1-TPDS is crucial for appropriate clinical management of BAP1 germline variant carriers and their families, including genetic counseling and surveillance for new tumors.MethodsWe collated germline variant status, tumor diagnoses, and information on BAP1 immunohistochemistry or loss of somatic heterozygosity on 106 published and 75 unpublished BAP1 germline variant-positive families worldwide to better characterize the genotypes and phenotypes associated with the BAP1-TPDS. Tumor spectrum and ages of onset were compared between missense and null variants. All statistical tests were two-sided.ResultsThe 181 families carried 140 unique BAP1 germline variants. The collated data confirmed the core tumor spectrum associated with the BAP1-TPDS and showed that some families carrying missense variants can exhibit this phenotype. A variety of noncore BAP1-TPDS -associated tumors were found in families of variant carriers. Median ages of onset of core tumor types were lower in null than missense variant carriers for all tumors combined (P < .001), mesothelioma (P < .001), cutaneous melanoma (P < .001), and nonmelanoma skin cancer (P < .001).ConclusionsThis analysis substantially increases the number of pathogenic BAP1 germline variants and refines the phenotype. It highlights the need for a curated registry of germline variant carriers for proper assessment of the clinical phenotype of the BAP1-TPDS and pathogenicity of new variants, thus guiding management of patients and informing areas requiring further research.

Dataset Information

Medical and Surgical Care of Patients With Mesothelioma and Their Relatives Carrying Germline BAP1 Mutations.

Publications

Medical and Surgical Care of Patients With Mesothelioma and Their Relatives Carrying Germline BAP1 Mutations.

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