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

Oriol Yélamos*, Cristián Navarrete-Dechent, Michael A. Marchetti, Tova Rogers, Zoe Apalla, Philippe Bahadoran, Nuria Blázquez-Sánchez, Klaus Busam, Cristina Carrera, Stephen W. Dusza, Arnaud de la Fouchardière, Gerardo Ferrara, Pedram Gerami, Harald Kittler, Aimilios Lallas, Josep Malvehy, José F. Millán-Cayetano, Kelly C. Nelson, Victor Li Quan, Susana PuigHoward Stevens, Luc Thomas, Ashfaq A. Marghoob

*Corresponding author for this work

Research output: Contribution to journalArticle

7 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)1585-1593
Number of pages9
JournalJournal of the American Academy of Dermatology
Volume80
Issue number6
DOIs
StatePublished - Jun 2019

Keywords

  • BAP1
  • BAP1-inactivated melanocytic tumors
  • Wiesner nevus
  • atypical Spitzoid tumor
  • dermoscopy
  • melanoma

ASJC Scopus subject areas

  • Dermatology

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    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., ... Marghoob, A. A. (2019). Clinical and dermoscopic features of cutaneous BAP1-inactivated melanocytic tumors: Results of a multicenter case-control study by the International Dermoscopy Society. Journal of the American Academy of Dermatology, 80(6), 1585-1593. https://doi.org/10.1016/j.jaad.2018.09.014