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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.

bmc cancer

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