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

Publication date: Available online 20 September 2018

Source: Journal of the American Academy of Dermatology

Author(s): 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 Puig

Abstract

Background

Multiple BAP-1 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

Retrospective, multicenter, case-control study. Participating centers clinical data, dermoscopic images, and histopathological data of biopsy-proven BIMTs. We compared the dermoscopic features between BIMTs and controls.

Results

The dataset consisted of 48 BIMTs from 31 patients (22 females, median age=37 years), and 80 controls. 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 a peripheral vessels (n=10, 21.3%); structureless pink-to-tan (n=7, 14.9%); 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<0.0001 and p=0.001, respectively)

Limitations

Small sample size, retrospective design, absence of germline genetic testing in all patients, inclusion bias towards more atypical-looking BIMTs.

Conclusion

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