RT Journal Article
T1 Clinical and dermoscopic features of cutaneous BAP1-inactivated melanocytic tumors: Results of a multicenter case-control study by the International Dermoscopy Society.
A1 Yélamos, Oriol
A1 Navarrete-Dechent, Cristián
A1 Marchetti, Michael A
A1 Rogers, Tova
A1 Apalla, Zoe
A1 Bahadoran, Philippe
A1 Blázquez-Sánchez, Nuria
A1 Busam, Klaus
A1 Carrera, Cristina
A1 Dusza, Stephen W
A1 de la Fouchardière, Arnaud
A1 Ferrara, Gerardo
A1 Gerami, Pedram
A1 Kittler, Harald
A1 Lallas, Aimilios
A1 Malvehy, Josep
A1 Millán-Cayetano, José F
A1 Nelson, Kelly C
A1 Quan, Victor Li
A1 Puig, Susana
A1 Stevens, Howard
A1 Thomas, Luc
A1 Marghoob, Ashfaq A
K1 BAP1
K1 BAP1-inactivated melanocytic tumors
K1 Wiesner nevus
K1 atypical Spitzoid tumor
K1 dermoscopy
K1 melanoma
AB Multiple BRCA1-associated protein 1 (BAP1)-inactivated melanocytic tumors (BIMTs) have been associated with a familial cancer syndrome involving germline mutations in BAP1. We sought to describe the clinical and dermoscopic features of BIMTs. 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. 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  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. Dome-shaped papules with pink-to-tan structureless areas and peripheral irregular dots/globules or network should raise the clinical suspicion for BIMT.
YR 2018
FD 2018-09-20
LK https://hdl.handle.net/10668/26652
UL https://hdl.handle.net/10668/26652
LA en
DS RISalud
RD Apr 8, 2025