ArticleModern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc2017
USP6 activation in nodular fasciitis by promoter-swapping gene fusions.
Article in Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 54 papers.
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54 citing papers in PubMed, 120 citations in OpenAlex.
- Regressing intraneural nodular fasciitis of the femoral nerve.Skeletal radiology · 2026Article
- Uncommon location, diagnostic challenge: A case series of acral low-grade fibromyxoid sarcoma.Virchows Archiv : an international journal of pathology · 2026Article
- Primary malignant aneurysmal bone cyst of the metatarsal with PAFAH1B1::USP6 fusion: expanding the clinicopathologic spectrum of malignant USP6 translocated neoplasms.Skeletal radiology · 2026Article
- Nodular fasciitis of the intradural cervical spine with *MIR22HG::USP6* fusion a rare postoperative occurrence and novel molecular pathogenesis.European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society · 2026Article
- Ulcerated nodular fasciitis of the finger mimicking soft tissue sarcoma: a case report.International cancer conference journal · 2026Article
- Malignant nodular fasciitis, a rare manifestation of a benign disease: case report.Frontiers in oncology · 2026Article
- Solitary fibrous tumor: an updated review.Journal of pathology and translational medicine · 2026Article
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- Intraneural nodular fasciitis in peripheral nerves: report of two cases and literature review.BMC musculoskeletal disorders · 2025Review
- Natural course of patients diagnosed with nodular fasciitis.BMC musculoskeletal disorders · 2025Article
- Nodular fasciitis: a case series unveiling novel and rare gene fusions, including two cases with aggressive clinical behavior.Virchows Archiv : an international journal of pathology · 2025Article
- An approach to reconstructing a segmental defect of the mandible involving the condyle secondary to nodular fasciitis in a pediatric patient: a case report.Journal of medical case reports · 2025Article
- Physiological roles and therapeutic implications of USP6.Cell death discovery · 2025Review
- Periorbital nodular fasciitis: a case report.BMC ophthalmology · 2025Article
- Nodular fasciitis of the sphenoid sinus presenting with a visual field defect: A case report.Surgical neurology international · 2025Article
- Papillary Thyroid Carcinoma with Fibromatosis/Fasciitis-Like/Desmoid-Type Stroma: Case Report of a Rare Subtype with Cytological and Molecular Study.Head and neck pathology · 2024Article
- Nodular Fasciitis of the Buccal Mucosa with a Novel USP6 Gene Rearrangement: A Case Report and Review of the Literature.Head and neck pathology · 2024Review
- Unusual fusion gene rearrangements in patients with nodular fasciitis: a study of rare and novel USP6 fusion partners with a review of the literature.Journal of clinical pathology · 2024Review
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Authors and funding
13 authors at 6 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Nodular fasciitis is a self-limited myofibroblastic lesion that can be misdiagnosed as a sarcoma as a result of its rapid growth, cellularity, and sometimes prominent mitotic activity. A recurrent translocation t(17;22) has been identified in nodular fasciitis, fusing the coding region of USP6 to the promoter region of MYH9, and resulting in increased USP6 expression. A subset of cases show USP6 rearrangement without the typical fusion variants by RT-PCR, or any MYH9 rearrangement by FISH. We sought to further characterize such tumors using molecular diagnostic assays. A novel RT-PCR assay was designed to detect the two known MYH9-USP6 fusion types in formalin-fixed paraffin-embedded and frozen tissue, and a break-apart FISH assay was designed to detect USP6 rearrangement. Twenty-six cases of nodular fasciitis diagnosed between 2002 and 2013 were retrieved from the pathology files of our institutions and were confirmed to be positive by FISH and/or RT-PCR. Seven samples showed USP6 rearrangement by FISH but were negative for MYH9-USP6 fusion by RT-PCR; these cases were subjected to a next-generation sequencing assay utilizing anchored multiplex PCR technology. This assay targets a single partner gene associated with fusions in bone and soft tissue tumors for agnostic detection of gene fusion partners. Novel fusion partners were identified in all seven cases and confirmed by RT-PCR. Structurally, all fusions consisted of the juxtaposition of the entire coding region of USP6 with the promoter of the partner gene, driving increased USP6 expression. This study confirms the neoplastic nature of nodular fasciitis, defines additional pathogenic fusion partners, and adds to the growing body of literature on USP6-associated neoplasia. Given the diagnostic challenges of these tumors, molecular assays can be useful ancillary tools; however, the prevalence of promoter swapping must be recognized when interpreting results.
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