PT  - JOURNAL ARTICLE
AU  - SHIZUHIDE NAKAYAMA
AU  - JUN NISHIO
AU  - MIKIKO AOKI
AU  - KAORI KOGA
AU  - KAZUKI NABESHIMA
AU  - TAKUAKI YAMAMOTO
TI  - Ubiquitin-specific Peptidase 6 (<em>USP6</em>)-associated Fibroblastic/Myofibroblastic Tumors: Evolving Concepts
AID  - 10.21873/cgp.20244
DP  - 2021 Mar 01
TA  - Cancer Genomics - Proteomics
PG  - 93--101
VI  - 18
IP  - 2
4099  - http://cgp.iiarjournals.org/content/18/2/93.short
4100  - http://cgp.iiarjournals.org/content/18/2/93.full
SO  - Cancer Genomics Proteomics2021 Mar 01; 18
AB  - 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.