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

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 mult...

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Bibliographic Details
Published in:BMC cancer 2019-11, Vol.19 (1), p.1077-8, Article 1077
Main Authors: Soares de Sá, Bianca Costa, de Macedo, Mariana Petaccia, Torrezan, Giovana Tardin, Braga, Juliana Casagrande Tavoloni, Fidalgo, Felipe, Moredo, Luciana Facure, Lellis, Rute, Duprat, João Pereira, Carraro, Dirce Maria
Format: Article
Language:English
Subjects:
Adult
Aged
Aged, 80 and over
BAP1
BIMT
Cancer
Case Report
Confocal microscopy
Dermoscopy
Dermoscopy - methods
Female
Genetic Predisposition to Disease
Germ-Line Mutation
Hereditary cancer syndromes
Humans
Male
Melanoma
Melanoma - genetics
Melanoma - pathology
Melanoma, Cutaneous Malignant
Microscopy
Microscopy, Confocal - methods
Middle Aged
Neoplastic Syndromes, Hereditary - genetics
Novels
Pedigree
Prognosis
Scientific equipment industry
Skin Neoplasms - genetics
Skin Neoplasms - pathology
Tumor Suppressor Proteins - genetics
Tumors
Ubiquitin Thiolesterase - genetics
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Summary: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. 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. 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.
ISSN:1471-2407
1471-2407
DOI:10.1186/s12885-019-6226-8