Year: 2025
Type: article
Study design: Case Report
Abstract: Since their original description by Wiesner et al., the spectrum of clinical, histopathologic, and molecular findings of BAP1 (BRCA1-associated protein 1)-inactivated melanocytomas has been more fully characterized. Herein, we report an exceptional presentation of multiple junctional melanocytic BAP1-inactivated melanocytomas with a clinically hypopigmented appearance in a patient. Targeted DNA sequencing demonstrated the same BAP1 frameshift mutation (BAP1 p.R59f) in three different lesions. One of the specimens also displayed two truncating mutations in NF1 (NF1 p.Q129* and NF1 p.Q1801*) at 8%-9% mutant allele frequency. To our knowledge, BIM confined entirely to the epidermis, and multiple BIMs presenting in hypopigmented fashion have not been widely reported previously.
Source: Journal of Cutaneous Pathology
DOI: 10.1111/cup.14808
Language: English
Subfield: Oncology
Field: Medicine
Domain: Health Sciences
Open Access status: bronze
OpenAlex ID: W4409202873