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BRCA1-associated protein (BAP1)-inactivated melanocytic tumors. | LitMetric

AI Article Synopsis

  • Cutaneous BRCA1-associated protein (BAP1)-inactivated melanocytic tumors (BIMTs) have been recognized as a specific type of tumor since 2011, despite being referred to by various names.
  • These tumors typically appear as reddish nodules on the skin and can resemble other conditions like Spitz nevi and nevoid melanoma, affecting individuals regardless of sex and age, but often emerging in the second or third decade of life for those with a genetic predisposition.
  • Families with germline BAP1 mutations may also experience a range of related tumors, including ocular melanoma, highlighting the complex genetic implications associated with these melanocytic tumors.

Article Abstract

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.

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Source
http://dx.doi.org/10.1111/cup.13530DOI Listing

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