ArticleModern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc2020
Recurrent and novel USP6 fusions in cranial fasciitis identified by targeted RNA sequencing.
Article in Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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17 citing papers in PubMed, 48 citations in OpenAlex.
- Orbital cranial fasciitis in childhood-a benign masquerader of rhabdomyosarcoma: case report and literature review.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2025Review
- Post-radiation cranial fasciitis in a pediatric medulloblastoma survivor: A case report and systematic review.International journal of surgery case reports · 2025Article
- Intraneural nodular fasciitis in peripheral nerves: report of two cases and literature review.BMC musculoskeletal disorders · 2025Review
- Physiological roles and therapeutic implications of USP6.Cell death discovery · 2025Review
- Larotrectinib for Newly Diagnosed Infantile Fibrosarcoma and Other PediatricJournal of clinical oncology : official journal of the American Society of Clinical Oncology · 2025Article
- Histopathogenesis of bone- and soft-tissue tumor spectrum with USP6 gene rearrangement: multiple partners involved in the tissue repair process.Histology and histopathology · 2023Review
- Pediatric dermatofibrosarcoma protuberans: A clinicopathologic and genetic analysis of 66 cases in the largest institution in Southwest China.Frontiers in oncology · 2023Article
- Molecular profiling identifies targeted therapy opportunities in pediatric solid cancer.Nature medicine · 2022Observational
- Unusual split green-orange signals in USP6 fluorescence in situ hybridization in a malignant peripheral nerve sheath tumor with a novel NF1-SCIMP fusion: a potential diagnostic pitfall.Virchows Archiv : an international journal of pathology · 2022Article
- Article
- Atypical nodular fasciitis with a novel PAFAH1B1-USP6 fusion in a 22-month-old boy.Virchows Archiv : an international journal of pathology · 2021Article
- Nodular Fasciitis With Malignant Morphology and aInternational journal of surgical pathology · 2021Article
- Novel partners of USP6 gene in a spectrum of bone and soft tissue lesions.Virchows Archiv : an international journal of pathology · 2021Article
- Characterization of novel USP6 gene rearrangements in a subset of so-called cellular fibroma of tendon sheath.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2021Article
- Regulation of Wnt Signaling through Ubiquitination and Deubiquitination in Cancers.International journal of molecular sciences · 2020Review
- Fusion of the Lumican (Cancer genomics & proteomicsArticle
- Ubiquitin-specific Peptidase 6 (Cancer genomics & proteomicsReview
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Authors and funding
11 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Cranial fasciitis is a benign myofibroproliferative lesion of the scalp and underlying bones typically occurring in the pediatric population. Histologically, it is characterized by loose fascicles of stellate cells in a fibromyxoid background, findings similar to those described in the closely related variant nodular fasciitis. Previously characterized as a reactive process, the identification of USP6 translocations in over 90% of nodular fasciitis cases prompted their reclassification as a clonal neoplastic process. Unlike nodular fasciitis, the molecular underpinnings of cranial fasciitis are less clear. While a subset of cranial fasciitis has been associated with Wnt/β-catenin pathway dysregulation, recent case reports suggest that this entity may also harbor USP6 fusions, a finding we sought to further investigate. We identified fifteen archival cases of cranial fasciitis, five females and ten males ranging in age from 3 months to 9 years (median 11 months), composed of formalin-fixed paraffin-embedded and fresh frozen tissues (11 and 4 cases respectively). Samples were evaluated on an RNA-based targeted sequencing panel targeting genes recurrently rearranged in neoplasia, including USP6. Five of fifteen cases (33%) were positive for USP6 rearrangements predicted to result in the fusion of the entire USP6 coding region to the promoter of the 5' partner, (three of which were novel): two SERPINH1-USP6 (novel) and one each of COL3A1-USP6 (novel), SPARC-USP6, and MYH9-USP6. These results demonstrate the recurrent nature of USP6 rearrangements in cranial fasciitis, and highlight the success of targeted RNA sequencing in identifying known and novel fusion partners. The identification of USP6 promoter-swapping rearrangements is helpful in understanding the underlying biology of cranial fasciitis, and reinforces its biologic relationship to nodular fasciitis. Targeted RNA sequencing is a helpful tool in diagnosing this pseudosarcomatous lesion.
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