Ali Gunesch, Iwei Yeh, Timothy McCalmont, Elizabeth Berry, Gretchen Vanderbeek, Kevin P White
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引用次数: 0
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.
期刊介绍：
Journal of Cutaneous Pathology publishes manuscripts broadly relevant to diseases of the skin and mucosae, with the aims of advancing scientific knowledge regarding dermatopathology and enhancing the communication between clinical practitioners and research scientists. Original scientific manuscripts on diagnostic and experimental cutaneous pathology are especially desirable. Timely, pertinent review articles also will be given high priority. Manuscripts based on light, fluorescence, and electron microscopy, histochemistry, immunology, molecular biology, and genetics, as well as allied sciences, are all welcome, provided their principal focus is on cutaneous pathology. Publication time will be kept as short as possible, ensuring that articles will be quickly available to all interested in this speciality.
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