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Gene of the month
Unravelling the USP6 gene: an update
  1. Fleur Cordier,
  2. David Creytens
  1. Pathology, Ghent University Hospital, Ghent, Belgium
  1. Correspondence to Dr David Creytens, Pathology, Ghent University Hospital, Ghent 9000, Belgium; david.creytens{at}uzgent.be

Abstract

Ubiquitin-specific protease 6 (USP6) rearrangements have been identified in aneurysmal bone cyst, nodular fasciitis, myositis ossificans, fibro-osseous pseudotumour of digits and cellular fibroma of tendon sheath. These entities show clinical as well as histological overlap, suggesting they are all clonal neoplastic belonging to the same biological spectrum and referred to as ‘USP6-associated neoplasms’. They all show a characteristic gene fusion formed by juxtaposition of the USP6 coding sequences to the promoter regions of several partner genes, leading to USP6 transcriptional upregulation.

  • soft tissue neoplasms
  • sarcoma
  • pathology, molecular

https://doi.org/10.1136/jcp-2023-208896

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    Footnotes

    • Handling editor Vikram Deshpande.

    • Contributors FC performed the writing of the paper and made the figures. DC performed the study concept, design and review of the paper. All authors read and approved the final paper.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

    • Provenance and peer review Commissioned; externally peer reviewed.

    • Supplemental material This content has been supplied by the author(s). It has not been vetted by BMJ Publishing Group Limited (BMJ) and may not have been peer-reviewed. Any opinions or recommendations discussed are solely those of the author(s) and are not endorsed by BMJ. BMJ disclaims all liability and responsibility arising from any reliance placed on the content. Where the content includes any translated material, BMJ does not warrant the accuracy and reliability of the translations (including but not limited to local regulations, clinical guidelines, terminology, drug names and drug dosages), and is not responsible for any error and/or omissions arising from translation and adaptation or otherwise.