Literature DB >> 32635781

USP6-Associated Neoplasms: A Rapidly Expanding Family of Lesions.

Laura S Hiemcke-Jiwa1,2, Joost M van Gorp3, Cyril Fisher4, David Creytens5, Paul J van Diest2, Uta Flucke1,6.   

Abstract

Nearly 20 years ago, the first description of a translocation involving chromosome 17 on which USP6 resides was described. Since then, not only the culprit gene but also many fusion partners, leading to transcriptional activation of USP6, have been detected. The first neoplasm known to harbor USP6 rearrangements was aneurysmal bone cyst. Since then, other entities like nodular fasciitis, myositis ossificans, fibro-osseous pseudotumor of digits, and a subgroup of fibromas of tendon sheath, probably representing tenosynovial nodular fasciitis, have been added to the list of USP6-rearranged lesions. Remarkably, all of them share clinical as well as morphological characteristics, and authors have suggested that these entities actually belong to the same spectrum. This review summarizes the current knowledge regarding USP6-rearranged lesions and further elaborates on how these neoplasms relate to one another. We propose to call these lesions UAN (Usp6-associated neoplasm).

Entities:  

Keywords:  USP6; aneurysmal bone cyst; fibro-osseous pseudotumor of digits; fibroma of tendon sheath; myositis ossificans; nodular fasciitis

Mesh:

Substances:

Year:  2020        PMID: 32635781     DOI: 10.1177/1066896920938878

Source DB:  PubMed          Journal:  Int J Surg Pathol        ISSN: 1066-8969            Impact factor:   1.271


  5 in total

1.  Intraarticular nodular fasciitis-detection of USP6 gene fusions in three cases by targeted RNA sequencing.

Authors:  Klemen Stražar; Daja Šekoranja; Alenka Matjašič; Andrej Zupan; Žiga Snoj; David Martinčič; Jože Pižem
Journal:  Virchows Arch       Date:  2021-01-06       Impact factor: 4.064

Review 2.  Multimodality imaging features of USP6-associated neoplasms.

Authors:  Stephen M Broski; Doris E Wenger
Journal:  Skeletal Radiol       Date:  2022-08-13       Impact factor: 2.128

3.  Fibroma of tendon sheath is defined by a USP6 gene fusion-morphologic and molecular reappraisal of the entity.

Authors:  Jože Pižem; Alenka Matjašič; Andrej Zupan; Boštjan Luzar; Daja Šekoranja; Katarina Dimnik
Journal:  Mod Pathol       Date:  2021-06-04       Impact factor: 7.842

Review 4.  Update on aneurysmal bone cyst: pathophysiology, histology, imaging and treatment.

Authors:  Ricardo Restrepo; David Zahrah; Liset Pelaez; H Thomas Temple; James W Murakami
Journal:  Pediatr Radiol       Date:  2022-08-09

5.  Nodular Fasciitis With Malignant Morphology and a COL6A2-USP6 Fusion: A Case Report (of a 10-Year-old Boy).

Authors:  Tess Tomassen; Cees van de Ven; Jakob Anninga; Christian Koelsche; Laura S Hiemcke-Jiwa; Simone Ter Horst; Wendy W de Leng; Franck Tirode; Marie Karanian; Uta Flucke
Journal:  Int J Surg Pathol       Date:  2021-02-24       Impact factor: 1.271

  5 in total

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