BRCA1‐associated protein (BAP1)‐inactivated melanocytic tumors

• Published in: Journal of cutaneous pathology Vol. 46; no. 12; pp. 965 - 972
• Main Authors: Zhang, Arianna J., Rush, Patrick S., Tsao, Hensin, Duncan, Lyn M.
• Format: Journal Article
• Language: English
• Published: Oxford, UK Blackwell Publishing Ltd 01-12-2019; Wiley Subscription Services, Inc
• Subjects: BAP1; BAP1‐inactivated naevus/melanocytoma; BIMT; BRCA1 protein; BRCA1 Protein - metabolism; Cell Proliferation; Eye Neoplasms - genetics; Eye Neoplasms - pathology; Female; Genetic Predisposition to Disease; Germ-Line Mutation - genetics; Humans; Male; Melanocytes - pathology; Melanoma; Melanoma - genetics; Melanoma - pathology; Melanoma, Cutaneous Malignant; Nevus; Nevus, Epithelioid and Spindle Cell - genetics; Nevus, Epithelioid and Spindle Cell - pathology; Nodules; Skin - pathology; Skin Neoplasms - genetics; Skin Neoplasms - pathology; Spitz; Tumor Suppressor Proteins - metabolism; Tumors; Ubiquitin Thiolesterase - metabolism; BIMT; Spitz; BAP1; BAP1-inactivated naevus/melanocytoma
• ISSN: 0303-6987; 1600-0560
• DOI: 10.1111/cup.13530

Although 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.