Ambiguous melanocytic tumors with loss of 3p21.
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.
Departments of *Dermatology †Pathology, University of California, San Francisco ‡Human Oncology and Pathogenesis Program, Memorial Sloan-Kettering Cancer Center, New York, NY.
Iwei
I
Yeh
Thaddeus W
TW
Mully
Thomas
T
Wiesner
Swapna S
SS
Vemula
Sonia A
SA
Mirza
Alyssa J
AJ
Sparatta
Timothy H
TH
McCalmont
Boris C
BC
Bastian
Philip E
PE
LeBoit
D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D005260:Female; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D008545:Melanoma / Q000235:genetics*; D008875:Middle Aged; D012878:Skin Neoplasms / Q000235:genetics*; D025521:Tumor Suppressor Proteins / Q000235:genetics*; D043222:Ubiquitin Thiolesterase / Q000235:genetics*; D055815:Young Adult
C400134:BAP1 protein, human; D025521:Tumor Suppressor Proteins; D043222:Ubiquitin Thiolesterase