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J Am Acad Dermatol. 2019 Jun;80(6):1585-1593. doi: 10.1016/j.jaad.2018.09.014. Epub 2018 Sep 20.

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

Author information

1
Dermatology Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York; Dermatology Department, Hospital Clínic, Institut d'Investigacions Biomediques August Pi i Sunyer, Universitat de Barcelona, and CIBER de Enfermedades Raras, Instituto de Salud Carlos III, Barcelona, Spain. Electronic address: oyelamos@gmail.com.
2
Dermatology Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York; Department of Dermatology, Facultad de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile.
3
Dermatology Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York.
4
First Department of Dermatology, Aristotle University, Thessaloniki, Greece.
5
Dermatology Department, Centre Hospitalier Universitaire de Nice, Nice, France.
6
Dermatology Department, Hospital Costa del Sol, Marbella, Spain.
7
Pathology Department, Memorial Sloan Kettering Cancer Center, New York, New York.
8
Dermatology Department, Hospital Clínic, Institut d'Investigacions Biomediques August Pi i Sunyer, Universitat de Barcelona, and CIBER de Enfermedades Raras, Instituto de Salud Carlos III, Barcelona, Spain.
9
Département de Biopathologie, Centre Léon Bérard, Lyon, France.
10
Anatomic Pathology Unit, Hospital of Macerata, Macerata, Italy.
11
Dermatology Department, Feinberg School of Medicine, Northwestern University, Chicago, Illinois.
12
Department of Dermatology, Medical University of Vienna, Vienna, Austria.
13
Dermatology Department, The University of Texas MD Anderson Cancer Center, Houston, Texas.
14
Skin Care Network, Barnet, London, United Kingdom.
15
Department of Dermatology, Lyon 1 University, Centre Hospitalier Lyon Sud and Lyon's Cancer Research Center INSERM U1052 - CNRS UMR5286, Lyon, France.

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.

KEYWORDS:

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

PMID:
30244062
PMCID:
PMC6426687
[Available on 2020-06-01]
DOI:
10.1016/j.jaad.2018.09.014
[Indexed for MEDLINE]

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