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SHR Neuro Cancer Cardio Lipid Metab Microb

Yeh, I; Mully, TW; Wiesner, T; Vemula, SS; Mirza, SA; Sparatta, AJ; McCalmont, TH; Bastian, BC; LeBoit, PE.
Ambiguous melanocytic tumors with loss of 3p21.
Am J Surg Pathol. 2014; 38(8): 1088-1095. Doi: 10.1097/PAS.0000000000000209 [OPEN ACCESS]
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Co-authors Med Uni Graz: Wiesner Thomas
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Abstract:: Germline loss-of-function mutations in BAP1 are associated with the development of cutaneous melanocytic tumors with some histopathologic characteristics seen in Spitz nevi. Similar melanocytic tumors occurring in a sporadic setting have been demonstrated to have biallelic loss of BAP1. In some of these sporadic tumors, loss of BAP1 occurs through mutation of 1 allele and genomic loss of the other. We screened our database of comparative genomic hybridization profiles of ambiguous melanocytic tumors to identify cases with a single genomic event involving loss of the BAP1 locus. The prevalence of tumors with a single genomic event involving loss of BAP1 was 6.7% in our study population. We further characterized the BAP1 status in 17 of these tumors with available additional material, confirming loss of BAP1 in all cases. We describe BAP1 loss in a blue nevus-like melanoma and further expand the histopathologic spectrum of spitzoid melanocytic neoplasms with BAP1 loss.
Find related publications in this database (using NLM MeSH Indexing): Adolescent -; Adult -; Aged -; Child -; Chromosomes, Human, Pair 3 - genetics; Comparative Genomic Hybridization -; Female -; Germ-Line Mutation -; Humans -; Male -; Melanoma - genetics; Middle Aged -; Skin Neoplasms - genetics; Tumor Suppressor Proteins - genetics; Ubiquitin Thiolesterase - genetics; Young Adult -
Find related publications in this database (Keywords): melanoma; BAP1; Spitz nevus; melanocytic neoplasia; combined nevi; BRAF