<i>USP6</i>-Associated Neoplasms: A Rapidly Expanding Family of Lesions

Hiemcke-Jiwa, Laura S.; Gorp, Joost M. van; Fisher, Cyril; Creytens, David; Diest, Paul J. van; Flucke, Uta

doi:10.1177/1066896920938878

Cited by 55 publications

(48 citation statements)

References 75 publications

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“…11,16-20 All these lesions probably form a spectrum of one entity called USP6 -associated neoplasms. 20 As our lesion was intramuscularly situated and showed focally ossification one could argue whether this case better could be classified as myositis ossificans. However, this is clinically not of relevance.…”

Section: Discussionmentioning

confidence: 84%

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

et al. 2021

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Nodular fasciitis is usually a benign lesion genetically characterized by ubiquitin-specific protease 6 ( USP6) rearrangements. We present a case of a 10-year-old boy with a 1.5-week history of a painless mass on the right chest wall, which was excised. A histomorphologically malignant tumor with pronounced pleomorphism, atypical mitotic figures, and a myoid immunophenotype was observed. The methylation profile was consistent with nodular fasciitis and fluorescence in situ hybridization confirmed USP6 rearrangement. Using Archer Fusion Plex (Sarcoma Panel) and RNA sequencing, a collagen, type VI, alpha 2 ( COL6A2) –USP6 gene fusion was subsequently identified. Furthermore, DNA clustering analysis also showed a match with nodular fasciitis. During the follow-up of 22 months, no recurrence or metastasis occurred. In conclusion, we describe a clinically benign, histomorphologically malignant mesenchymal neoplasm with a myoid immunophenotype, and a genetic and epigenetic profile consistent with nodular fasciitis. In such cases, molecular analysis is a useful adjunct to avoid unnecessary overtreatment.

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Section: Discussionmentioning

confidence: 84%

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

et al. 2021

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“…USP6 is a deubiquitylase and oncogene overexpressed in multiple skin, soft tissue, and bone neoplasms as a result of somatic chromosomal rearrangement. 12 A seminal investigation into USP6 overexpression in NF found one translocation imparting an MYH9-USP6 fusion product implicated in over 90% of studied cases, with subsequent studies reporting a host of other unique fusion partners in the remaining cases. 12,13 Regardless, the end product is USP6 overexpression, which has been shown to activate pro-growth Wnt signaling pathways in vitro.…”

Section: Discussionmentioning

confidence: 99%

USP6 rearrangement in pediatric nodular fasciitis

et al. 2022

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Nodular fasciitis (NF) is a myofibroblastic proliferation that is uncommonly present in pediatric patients. These benign neoplasms can masquerade as more insidious sarcomatous proliferations on both clinical exam and initial histopathologic review, often prompting undue concern in patients, parents, and providers. While immunohistochemical analysis of NF can be variable, adding to the diagnostic uncertainty, molecular analysis documenting ubiquitin‐specific protease 6 (USP6) gene rearrangement can help confirm the diagnosis as an association between NF and USP6 overexpression was first identified 10 years ago in an analysis that found rearrangements of the involved locus in over 90% of studied samples. In this report, we review one case of NF located on the chin of a nine‐year‐old girl in which molecular testing was essential to secure the correct diagnosis, and provide a summary of documented cases of USP6 overexpression in transient pediatric neoplasms.

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“…Myositis ossificans (MO) and fibro-osseous pseudotumor of digits (FOPD) also show the identification of USP6 gene fusion, indicating that these lesions may present the same entity. It is known that multiple fusion patterns of USP6 lead to transcriptional activation of USP6 [46,47].…”

Section: Nodular Fasciitis As Usp6-associated Neoplasia Through Pathwaymentioning

confidence: 99%

Nodular fasciitis: USP6-associated neoplasia through multiple pathways

Fujioka¹

2021

JCRCT

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Even though nodular fasciitis (NF) is benign and self-limited nature, the presentations of clinical, ultrasonographic, and pathological features have been described as mimicking sarcoma. Erickson-Johnson et al. suggested that ubiquitin-specific protease 6 (USP6) transcriptional upregulation may be the driving force behind the high proliferative activity and growth of NF. When the lesion showed the proliferative findings of the margin on both ultrasonography (US) and pathology, accompanied by clinically rapid growth, self-limited and/or regress course, NF could be strongly suggested as previously described. In this article, the author reviews the current knowledge of NF as USP6-associated neoplasia and also describes the therapeutic strategy in NF. In addition to the presentations of clinical, ulrtrasonographic, and pathological appearances of NF, the evaluation of percentage of USP6 break-apart FISH signals reflecting lifetime and mitotic counts in NF may be a potential procedure for accurate diagnosis in particularly young NF. It is putative that the inhibition of USP6-related genes might be the potential therapeutic strategies for the extremely rare malignant nodular fasciitis.

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USP6-Associated Neoplasms: A Rapidly Expanding Family of Lesions

Cited by 55 publications

References 75 publications

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

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

USP6 rearrangement in pediatric nodular fasciitis

Nodular fasciitis: USP6-associated neoplasia through multiple pathways

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