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Review ArticleReview

Ubiquitin-specific Peptidase 6 (USP6)-associated Fibroblastic/Myofibroblastic Tumors: Evolving Concepts

SHIZUHIDE NAKAYAMA, JUN NISHIO, MIKIKO AOKI, KAORI KOGA, KAZUKI NABESHIMA and TAKUAKI YAMAMOTO
Cancer Genomics & Proteomics March 2021, 18 (2) 93-101; DOI: https://doi.org/10.21873/cgp.20244
SHIZUHIDE NAKAYAMA
1Department of Orthopaedic Surgery, Faculty of Medicine, Fukuoka University, Fukuoka, Japan;
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JUN NISHIO
1Department of Orthopaedic Surgery, Faculty of Medicine, Fukuoka University, Fukuoka, Japan;
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  • For correspondence: jnishio@cis.fukuokau.ac.jp
MIKIKO AOKI
2Department of Pathology, Faculty of Medicine, Fukuoka University, Fukuoka, Japan
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KAORI KOGA
2Department of Pathology, Faculty of Medicine, Fukuoka University, Fukuoka, Japan
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KAZUKI NABESHIMA
2Department of Pathology, Faculty of Medicine, Fukuoka University, Fukuoka, Japan
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TAKUAKI YAMAMOTO
1Department of Orthopaedic Surgery, Faculty of Medicine, Fukuoka University, Fukuoka, Japan;
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Abstract

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.

  • Nodular fasciitis
  • fibroma of tendon sheath
  • myositis ossificans
  • fibro-osseous pseudotumor of digits
  • USP6
  • review
  • Received January 5, 2021.
  • Revision received January 17, 2021.
  • Accepted January 18, 2021.
  • Copyright© 2021, International Institute of Anticancer Research (Dr. George J. Delinasios), All rights reserved
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Cancer Genomics - Proteomics: 18 (2)
Cancer Genomics & Proteomics
Vol. 18, Issue 2
March-April 2021
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Ubiquitin-specific Peptidase 6 (USP6)-associated Fibroblastic/Myofibroblastic Tumors: Evolving Concepts
SHIZUHIDE NAKAYAMA, JUN NISHIO, MIKIKO AOKI, KAORI KOGA, KAZUKI NABESHIMA, TAKUAKI YAMAMOTO
Cancer Genomics & Proteomics Mar 2021, 18 (2) 93-101; DOI: 10.21873/cgp.20244

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Ubiquitin-specific Peptidase 6 (USP6)-associated Fibroblastic/Myofibroblastic Tumors: Evolving Concepts
SHIZUHIDE NAKAYAMA, JUN NISHIO, MIKIKO AOKI, KAORI KOGA, KAZUKI NABESHIMA, TAKUAKI YAMAMOTO
Cancer Genomics & Proteomics Mar 2021, 18 (2) 93-101; DOI: 10.21873/cgp.20244
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  • Article
    • Abstract
    • Nodular Fasciitis
    • Cellular Fibroma of Tendon Sheath
    • Myositis Ossificans and Fibro-Osseous Pseudotumor of Digits: Are they Related?
    • Molecular Diagnostics
    • Behavior and Treatment
    • Conclusion
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Keywords

  • Nodular fasciitis
  • fibroma of tendon sheath
  • myositis ossificans
  • fibro-osseous pseudotumor of digits
  • USP6
  • review
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