
doi: 10.1111/cup.13530
pmid: 31233225
AbstractAlthough discussed using variable terminology, cutaneous BRCA1‐associated protein (BAP1)‐inactivated melanocytic tumor (BIMT) has been considered a discrete diagnostic entity since 2011. Here, we review the initial genomic studies that identified these distinct melanocytic tumors and the clinical and histopathological features that define these tumors. These epithelioid, predominantly dermal, and melanocytic tumors present as erythematous nodules and histopathologically have features that may overlap with Spitz nevi and nevoid melanoma. There is no sex predilection, and cutaneous BIMTs can appear at any age; however, in most familial (germline mutant) cases patients have multiple cutaneous tumors with a first diagnosis in the second or third decade of life; ocular melanoma and other tumors are increasingly identified in these kindreds with germline BAP1 mutation. These tumors have been described with a myriad of terms including: Wiesner nevus, nevoid melanoma‐like melanocytic proliferation (NEMMP), BAP1 mutant Spitz nevus, BAP1 mutant nevoid melanoma, cutaneous BAPoma, and most recently cutaneous BIMT.
Male, Skin Neoplasms, BRCA1 Protein, Eye Neoplasms, Tumor Suppressor Proteins, Cutaneous Malignant Melanoma, Nevus, Epithelioid and Spindle Cell, Humans, Melanocytes, Female, Genetic Predisposition to Disease, Melanoma, Ubiquitin Thiolesterase, Germ-Line Mutation, Cell Proliferation, Skin
Male, Skin Neoplasms, BRCA1 Protein, Eye Neoplasms, Tumor Suppressor Proteins, Cutaneous Malignant Melanoma, Nevus, Epithelioid and Spindle Cell, Humans, Melanocytes, Female, Genetic Predisposition to Disease, Melanoma, Ubiquitin Thiolesterase, Germ-Line Mutation, Cell Proliferation, Skin
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