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


Authors: Yélamos, O.; Navarrete-Dechent, C.; Marchetti, M. A.; Rogers, T.; Apalla, Z.; Bahadoran, P.; Blázquez-Sánchez, N.; Busam, K.; Carrera, C.; Dusza, S. W.; de la Fouchardière, A.; Ferrara, G.; Gerami, P.; Kittler, H.; Lallas, A.; Malvehy, J.; Millán-Cayetano, J. F.; Nelson, K. C.; Quan, V. L.; Puig, S.; Stevens, H.; Thomas, L.; Marghoob, A. A.
Article Title: Clinical and dermoscopic features of cutaneous BAP1-inactivated melanocytic tumors: Results of a multicenter case-control study by the International Dermoscopy Society
Abstract: 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. © 2018 American Academy of Dermatology, Inc.
Keywords: melanoma; dermoscopy; bap1; wiesner nevus; atypical spitzoid tumor; bap1-inactivated melanocytic tumors
Journal Title: Journal of the American Academy of Dermatology
Volume: 80
Issue: 6
ISSN: 0190-9622
Publisher: Mosby Elsevier  
Date Published: 2019-06-01
Start Page: 1585
End Page: 1593
Language: English
DOI: 10.1016/j.jaad.2018.09.014
PUBMED: 30244062
PROVIDER: scopus
PMCID: PMC6426687
DOI/URL:
Notes: Article -- Export Date: 3 June 2019 -- Source: Scopus
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MSK Authors
  1. Stephen Dusza
    288 Dusza
  2. Ashfaq A Marghoob
    534 Marghoob
  3. Klaus J Busam
    688 Busam
  4. Michael Armando Marchetti
    156 Marchetti
  5. Tova   Rogers
    11 Rogers