Clinical and dermoscopic features of cutaneous BAP1-inactivated melanocytic tumors: Results of a multicenter case-control study by the International Dermoscopy Society

J Am Acad Dermatol. 2019 Jun;80(6):1585-1593. doi: 10.1016/j.jaad.2018.09.014. Epub 2018 Sep 20.


Background: Multiple BRCA1-associated protein 1 (BAP1)-inactivated melanocytic tumors (BIMTs) have been associated with a familial cancer syndrome involving germline mutations in BAP1.

Objectives: We sought to describe the clinical and dermoscopic features of BIMTs.

Methods: This was a retrospective, multicenter, case-control study. Participating centers contributed clinical data, dermoscopic images, and histopathologic data of biopsy-proven BIMTs. We compared the dermoscopic features between BIMTs and control patients.

Results: The dataset consisted of 48 BIMTs from 31 patients (22 women; median age 37 years) and 80 control patients. Eleven patients had a BAP1 germline mutation. Clinically, most BIMTs presented as pink, dome-shaped papules (n = 24). Dermoscopically, we identified 5 patterns: structureless pink-to-tan with irregular eccentric dots/globules (n = 14, 29.8%); structureless pink-to-tan with peripheral vessels (n = 10, 21.3%); structureless pink-to-tan (n = 7, 14.9%); a network with raised, structureless, pink-to-tan areas (n = 7, 14.9%); and globular pattern (n = 4, 8.5%). The structureless with eccentric dots/globules pattern and network with raised structureless areas pattern were only identified in BIMT and were more common in patients with BAP1 germline mutations (P < .0001 and P = .001, respectively).

Limitations: Limitations included our small sample size, retrospective design, the absence of germline genetic testing in all patients, and inclusion bias toward more atypical-looking BIMTs.

Conclusions: Dome-shaped papules with pink-to-tan structureless areas and peripheral irregular dots/globules or network should raise the clinical suspicion for BIMT.

Keywords: BAP1; BAP1-inactivated melanocytic tumors; Wiesner nevus; atypical Spitzoid tumor; dermoscopy; melanoma.

Publication types

  • Comparative Study
  • Multicenter Study

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Biopsy
  • Case-Control Studies
  • Child
  • Databases, Factual
  • Dermoscopy
  • Female
  • Germ-Line Mutation
  • Humans
  • Male
  • Melanoma / genetics
  • Melanoma / pathology*
  • Middle Aged
  • Neoplasms, Multiple Primary / genetics
  • Neoplasms, Multiple Primary / pathology
  • Neoplastic Syndromes, Hereditary / genetics
  • Nevus, Epithelioid and Spindle Cell / genetics
  • Nevus, Epithelioid and Spindle Cell / pathology
  • Nevus, Pigmented / genetics
  • Nevus, Pigmented / pathology*
  • Observer Variation
  • Retrospective Studies
  • Sample Size
  • Single-Blind Method
  • Skin Neoplasms / genetics
  • Skin Neoplasms / pathology*
  • Tumor Suppressor Proteins / genetics*
  • Ubiquitin Thiolesterase / genetics*
  • Young Adult


  • BAP1 protein, human
  • Tumor Suppressor Proteins
  • Ubiquitin Thiolesterase