BAP1 tumor predisposition syndrome case report: pathological and clinical aspects of BAP1-inactivated melanocytic tumors (BIMTs), including dermoscopy and confocal microscopy

Autor(es)

Soares de Sa, Bianca Costa ^[1] ; de Macedo, Mariana Petaccia ^[2] ; Torrezan, Giovana Tardin ^{[3, 4]} ; Tavoloni Braga, Juliana Casagrande ^[1] ; Fidalgo, Felipe ^[3] ; Moredo, Luciana Facure ^[1] ; Lellis, Rute ^[2] ; Duprat, Joao Pereira ^[1] ; Carraro, Dirce Maria ^{[3, 4]}

Afiliação do(s) autor(es)

^[1] AC Camargo Canc Ctr, Skin Canc Dept, Rua Prof Antonio Prudente 211, BR-01509900 Sao Paulo, SP - Brazil

^[2] AC Camargo Canc Ctr, Dept Pathol, Rua Prof Antonio Prudente 211, BR-01509900 Sao Paulo, SP - Brazil

^[3] AC Camargo Canc Ctr, Lab Genom & Mol Biol, Rua Tagua 440, BR-0508010 Sao Paulo, SP - Brazil

^[4] AC Camargo Canc Ctr, Natl Inst Sci & Technol Oncogen & Therapeut Innov, Rua Prof Antonio Prudente 211, Rua Tagua 400, BR-01509900 Sao Paulo, SP - Brazil

• Tipo de documento: Artigo Científico
• Fonte: BMC CANCER; v. 19, n. 1 NOV 9 2019.
• Citações Web of Science: 0

Resumo

Background BRCA1 associated-protein 1 (BAP1) tumor predisposition syndrome is associated with an increased risk for malignant mesotheliomas, uveal and cutaneous melanomas, renal cell carcinomas, and singular cutaneous lesions. The latter are referred to as BAP1-inactivated melanocytic tumors (BIMTs). When multiple BIMTs manifest, they are considered potential markers of germline BAP1 mutations. Case presentation Here, we report a novel pathogenic BAP1 germline variant in a family with a history of BIMTs, cutaneous melanomas, and mesotheliomas. We also describe singular pathological aspects of the patient's BIMT lesions and their correlation with dermoscopic and reflectance confocal microscopy findings. Conclusions This knowledge is crucial for the recognition of BIMTs by dermatologists and pathologists, allowing the determination of appropriate management for high-risk patients, such as genetic investigations and screening for potentially aggressive tumors. (AU)

• Processo FAPESP: 13/23277-8 - Aspectos moleculares envolvidos no risco, desenvolvimento e progressão do carcinoma ductal de mama: busca de novos genes de susceptibilidade e investigação da progressão do carcinoma in situ e do papel da mutação em BRCA1 no tumor triplo negativo
• Beneficiário: Dirce Maria Carraro
• Modalidade de apoio: Auxílio à Pesquisa - Temático