Clinical and dermoscopic features of cutaneous BAP1-inactivated melanocytic tumors: Results of a multicenter case-control study by the International Dermoscopy Society
| Autor: | Kelly C. Nelson, Ashfaq A. Marghoob, Klaus J. Busam, José Francisco Millán-Cayetano, Cristian Navarrete-Dechent, Stephen W. Dusza, Zoe Apalla, Oriol Yélamos, Philippe Bahadoran, Howard Stevens, Michael A. Marchetti, Luc Thomas, Aimilios Lallas, Pedram Gerami, Josep Malvehy, Harald Kittler, Susana Puig, Gerardo Ferrara, Nuria Blázquez-Sánchez, Victor L. Quan, Cristina Carrera, Arnaud de la Fouchardière, Tova Rogers |
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| Rok vydání: | 2019 |
| Předmět: |
Adult
Male medicine.medical_specialty Skin Neoplasms Adolescent Databases Factual Biopsy Dermoscopy Dermatology Article Germline Neoplasms Multiple Primary Young Adult 030207 dermatology & venereal diseases 03 medical and health sciences 0302 clinical medicine Germline mutation Neoplastic Syndromes Hereditary Nevus Epithelioid and Spindle Cell Humans Medicine Single-Blind Method In patient Child Melanoma Germ-Line Mutation Aged Retrospective Studies Genetic testing Observer Variation Nevus Pigmented BAP1 medicine.diagnostic_test business.industry Tumor Suppressor Proteins Case-control study Small sample Middle Aged medicine.disease Case-Control Studies Sample Size 030220 oncology & carcinogenesis Female business Ubiquitin Thiolesterase |
| Zdroj: | J Am Acad Dermatol |
| ISSN: | 0190-9622 |
| DOI: | 10.1016/j.jaad.2018.09.014 |
| Popis: | 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 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. |
| Databáze: | OpenAIRE |
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