BAP1 CANCER SYNDROME
By Gary M. White, MD
BAP1 Cancer Syndrome is a a germline tumor predisposition syndrome associated with BAP1 inactivation. Patients are at risk for uveal melanoma, cutaneous melanoma, mesothelioma and renal cell carcinoma.
- The BAP1 gene (BRCA1-associated protein 1) is a tumor suppressor gene.
- Patients may experience the early onset of multiple atypical Spitz tumors--so called melanocytic BAP1–mutated atypical intradermal tumors (MBAITs).
Patients typically develop MBAITs which appear as multiple (5-50) skin-colored, dome-shaped, well-circumscribed papules.
Low power histologic examination of an MBAIT shows a sheetlike proliferation of epithelioid melanocytes. Medium power shows spitzoid epithelioid cells at the center of the lesion with nests of smaller conventional nevomelanocytes laterally. Keratinocytes in the epidermis show strong nuclear positivity for BAP1.
J Am Acad Dermatol. 2016 Mar; 74(3): 411–420.
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