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USP6 rearrangement in pediatric nodular fasciitis.

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Nodular fasciitis (NF) is a myofibroblastic proliferation that uncommonly presents in pediatric patients. These benign neoplasms can masquerade as more insidious sarcomatous proliferations on both clinical exam and initial histopathologic… Click to show full abstract

Nodular fasciitis (NF) is a myofibroblastic proliferation that uncommonly presents 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.1 In this report, we review one case of nodular fasciitis located on the chin of a 9-year-old 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. This article is protected by copyright. All rights reserved.

Keywords: usp6 rearrangement; nodular fasciitis; pediatric nodular; fasciitis; rearrangement pediatric

Journal Title: Journal of cutaneous pathology
Year Published: 2022

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