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  • Title: Ambiguous melanocytic tumors with loss of 3p21.
    Author: Yeh I, Mully TW, Wiesner T, Vemula SS, Mirza SA, Sparatta AJ, McCalmont TH, Bastian BC, LeBoit PE.
    Journal: Am J Surg Pathol; 2014 Aug; 38(8):1088-95. PubMed ID: 24705312.
    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.
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