Abstract
USP6 (also known as TRE17) is a ubiquitin-specific protease that was identified as an oncogene in transfection experiments with Ewing sarcoma DNA 2 decades ago. Until recently, little was known about USP6 function and mechanisms of oncogenic activation. The identification of USP6 fusion genes in aneurysmal bone cyst (ABC) and, more recently, in nodular fasciitis led to a better understanding of the pathogenesis of these lesions. Furthermore, the detection of USP6 genomic rearrangements or USP6 fusion genes may be used as a diagnostic tool for these lesions. In this review, we discuss the clinicopathologic features, molecular pathology, and pathogenesis of ABC and nodular fasciitis. We also discuss the possible line of differentiation of ABC and its relationship to nodular fasciitis and other lesions.
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