Occurrence of BAP1 germline mutations in cutaneous melanocytic tumors with loss of BAP1‐expression: A pilot study |
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Authors: | Odile Cabaret Emilie Perron Brigitte Bressac‐ de Paillerets Nadem Soufir Arnaud de la Fouchardière |
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Affiliation: | 1. Gustave Roussy, Service de Génétique, Villejuif, France;2. Département of Biopathology, Centre Leon Bérard, Lyon, France;3. Service d'anatomopathologie, Centre Hospitalier Universitaire de Québec‐Université Laval, Canada;4. Département de biologie moléculaire, de biochimie médicale et de pathologie, Faculté de médecine, Université Laval, Québec, Canada;5. INSERM, U976 & AP‐HP, H?pital Bichat Claude Bernard, Paris, France |
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Abstract: | Melanocytic BAP1‐associated intradermal tumors (MBAITs) can either be sporadic or associated with a cancer‐predisposition syndrome. In this study we explored the clinical status of 136 patients in which at least one MBAIT was found. 49/136 (36%) of them gave their signed consent for an oncogenetic BAP1 blood test. 28/136 patients (20%) diagnosed with an MBAIT had other MBAITs and/or a personal or familial history of BAP1‐related cancers that could clinically designate them as potential carriers of a BAP1 germline mutation. 17 of these 28 patients underwent oncogenetic testing. A deleterious mutation of BAP1 was confirmed in 12/17 cases. 4/17 cases were wild‐type; all had a single MBAIT and a history of skin melanoma. A variant of unknown significance was found in one case with multiple MBAITs. Among the 12 mutated cases, multiple MBAITs were present in 10/12 cases and were the only clinical sign in 4/12 cases. The remaining 32/49 blood‐tested cases with an isolated MBAIT were wild type for BAP1 in 25/32 cases or showed a variant of unknown significance in 7/32 cases. We recommend, following the diagnosis of a MBAIT, performing a BAP1 immunohistochemistry in all other cutaneous melanocytic tumors removed previously or simultaneously and all skin melanomas. This screening could help clinicians prioritize which patients would most benefit from oncogenetic testing. |
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