Department of Orthopaedic Surgery, Faculty of Medicine, Fukuoka University, Fukuoka, Japan.
Department of Orthopaedic Surgery, Faculty of Medicine, Fukuoka University, Fukuoka, Japan;
Cancer Genomics Proteomics. 2021 Mar-Apr;18(2):93-101. doi: 10.21873/cgp.20244.
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.
泛素特异性肽酶 6（USP6）是一种位于 17p13 染色体上的同源特异性基因，作为一种去泛素化酶，具有多种功能，包括细胞内运输、炎症信号、细胞转化和蛋白质周转。USP6 重排在动脉瘤样骨囊肿中首次被发现，导致启动子交换和野生型 USP6 的过度表达。几种形态上重叠的纤维母细胞/肌纤维母细胞瘤已知存在 USP6 重排，包括结节性筋膜炎、腱鞘细胞纤维瘤、骨化性肌炎和指骨纤维骨性假瘤。在过去的几年中，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建议，USP6 重排病变通常是良性的，并且在生长过程中通常是自限性的。这篇综述提供了 USP6 相关纤维母细胞/肌纤维母细胞瘤的临床、组织学和分子遗传学特征的最新概述，并讨论了如何对这些病变进行最佳分类。
