Clinical and dermoscopic features of cutaneous BAP1-inactivated melanocytic tumors: Results of a multicenter case-control study by the International Dermoscopy Society.
Adolescent
Adult
Aged
Biopsy
Case-Control Studies
Child
Databases, Factual
Dermoscopy
Female
Germ-Line Mutation
Humans
Male
Melanoma
/ genetics
Middle Aged
Neoplasms, Multiple Primary
/ genetics
Neoplastic Syndromes, Hereditary
/ genetics
Nevus, Epithelioid and Spindle Cell
/ genetics
Nevus, Pigmented
/ genetics
Observer Variation
Retrospective Studies
Sample Size
Single-Blind Method
Skin Neoplasms
/ genetics
Tumor Suppressor Proteins
/ genetics
Ubiquitin Thiolesterase
/ genetics
Young Adult
BAP1
BAP1-inactivated melanocytic tumors
Wiesner nevus
atypical Spitzoid tumor
dermoscopy
melanoma
Journal
Journal of the American Academy of Dermatology
ISSN: 1097-6787
Titre abrégé: J Am Acad Dermatol
Pays: United States
ID NLM: 7907132
Informations de publication
Date de publication:
Jun 2019
Jun 2019
Historique:
received:
03
07
2018
revised:
23
08
2018
accepted:
06
09
2018
pubmed:
24
9
2018
medline:
29
10
2019
entrez:
24
9
2018
Statut:
ppublish
Résumé
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 < .0001 and P = .001, respectively). 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.
Sections du résumé
BACKGROUND
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
OBJECTIVE
We sought to describe the clinical and dermoscopic features of BIMTs.
METHODS
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
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
CONCLUSIONS
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
CONCLUSIONS
Dome-shaped papules with pink-to-tan structureless areas and peripheral irregular dots/globules or network should raise the clinical suspicion for BIMT.
Identifiants
pubmed: 30244062
pii: S0190-9622(18)32591-X
doi: 10.1016/j.jaad.2018.09.014
pmc: PMC6426687
mid: NIHMS992287
pii:
doi:
Substances chimiques
BAP1 protein, human
0
Tumor Suppressor Proteins
0
Ubiquitin Thiolesterase
EC 3.4.19.12
Types de publication
Comparative Study
Journal Article
Multicenter Study
Langues
eng
Sous-ensembles de citation
IM
Pagination
1585-1593Subventions
Organisme : NCI NIH HHS
ID : P30 CA008748
Pays : United States
Informations de copyright
Copyright © 2018 American Academy of Dermatology, Inc. Published by Elsevier Inc. All rights reserved.
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