Ubiquitin-specific peptidase 6 (USP6) is a hominoid-specific gene residing on chromosome 17p13 and serves as a deubiquitinating enzyme with a diverse set of functions including intracellular trafficking, inflammatory signaling, cell transformation and protein turnover. USP6 rearrangements were first identified in aneurysmal bone cysts, resulting in promoter swapping and over-expression of wild type USP6. Several morphologically overlapping fibroblastic/myofibroblastic tumors are known to harbor USP6 rearrangements, including nodular fasciitis, cellular fibroma of tendon sheath, myositis ossificans and fibro-osseous pseudotumor of digits. Over the past few years, fusions involving the USP6 gene and various partner genes have been described in these neoplasms. The current World Health Organization Classification of Tumors of Soft Tissue suggests that USP6-rearranged lesions are typically benign and usually self-limited in their growth. This review provides an updated overview of the clinical, histological and molecular genetic features of USP6-associated fibroblastic/myofibroblastic tumors and discusses how these lesions should be best classified.

中文翻译：

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泛素特异性肽酶 6 (USP6) 相关成纤维细胞/肌成纤维细胞肿瘤：不断发展的概念。

泛素特异性肽酶 6 (USP6) 是一种位于 17p13 染色体上的类人猿特异性基因，是一种去泛素化酶，具有多种功能，包括细胞内运输、炎症信号传导、细胞转化和蛋白质周转。USP6 重排首先在动脉瘤性骨囊肿中发现，导致启动子交换和野生型 USP6 的过度表达。已知几种形态学上重叠的成纤维细胞/肌纤维母细胞肿瘤具有 USP6 重排，包括结节性筋膜炎、腱鞘细胞纤维瘤、骨化性肌炎和手指纤维骨性假瘤。在过去几年中，已经在这些肿瘤中描述了涉及 USP6 基因和各种伙伴基因的融合。目前的世界卫生组织软组织肿瘤分类表明，USP6 重排的病变通常是良性的，并且其生长通常具有自限性。本综述提供了 USP6 相关成纤维细胞/肌纤维母细胞肿瘤的临床、组织学和分子遗传学特征的最新概述，并讨论了如何最好地对这些病变进行分类。