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BRCA1-associated protein (BAP1)-inactivated melanocytic tumors

Arianna J Zhang1, Patrick S Rush2, Hensin Tsao3,4

  • 1Pathology Service, Massachusetts General Hospital, Boston, Massachusetts.

Journal of Cutaneous Pathology
|June 25, 2019
PubMed

Insights

Cutaneous BRCA1-associated protein (BAP1)-inactivated melanocytic tumors (BIMTs) are distinct entities. Reviewing genomic and clinical data, these epithelioid tumors can mimic Spitz nevi and nevoid melanoma.

Area of Science:

  • Dermatology
  • Oncology
  • Genetics

Background:

  • Cutaneous BRCA1-associated protein (BAP1)-inactivated melanocytic tumor (BIMT) is a recognized diagnostic entity.
  • BIMTs exhibit epithelioid morphology, predominantly dermal location, and can present as erythematous nodules.
  • Histopathological features may overlap with Spitz nevi and nevoid melanoma, necessitating careful diagnosis.

Purpose of the Study:

  • To review initial genomic studies identifying BIMTs.
  • To delineate the clinical and histopathological features defining these tumors.
  • To consolidate understanding of BIMTs and their varied terminology.

Main Methods:

  • Review of initial genomic studies on BIMTs.
  • Analysis of clinical presentation and histopathological characteristics.
  • Compilation of diverse terminology used for these tumors.

Main Results:

  • Genomic studies identified distinct melanocytic tumors now termed BIMTs.
  • BIMTs are epithelioid, dermal tumors presenting as erythematous nodules.
  • No sex predilection; can occur at any age, with familial cases showing multiple tumors and associated ocular melanoma.

Conclusions:

  • BIMTs are a distinct diagnostic entity with specific genomic underpinnings.
  • Clinical and histopathological features, though sometimes overlapping, aid in diagnosis.
  • Germline BAP1 mutations are associated with familial BIMTs and increased risk of other tumors.
Keywords:
BAP1-inactivated naevus/melanocytomaBAP1BIMTSpitz

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