ArticleHead and neck pathology2023
A Low Grade Nasopharyngeal sarcoma With FUS::NACC1 Fusion and Immunohistochemical Evidence of Epithelial Differentiation: Expanding the Clinicopathologic Spectrum of an Emerging Entity.
Article in Head and neck pathology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed, 4 citations in OpenAlex.
- Clinicopathologic and proteomic characteristics of low-grade undifferentiated spindle cell sarcoma.Frontiers in molecular biosciences · 2025Article
- A novel FUS::BEND2 fusion expanding the molecular spectrum of astroblastomas.Free neuropathology · 2024Article
- A Low-grade Sinonasal Sarcoma Harboring EWSR1::BEND2: Expanding the Differential Diagnosis of Sinonasal Spindle Cell Neoplasms.Head and neck pathology · 2023Article
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Authors and funding
3 authors at 2 institutions in 1 country.
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Abstract
backgroundRNA sequencing of unclassified soft tissue tumors has allowed for definition of multiple new entities. Antonescu et al. recently reported three case of low grade sarcoma with recurrent EWSR1/FUS::NACC1 fusion and distinctive storiform architecture that were suggestive of a novel tumor type.
methodsHere, we present a case of an additional sarcoma with FUS::NACC1 fusion that arose in the head and neck and showed immunohistochemical evidence of epithelial differentiation.
resultsA 41 year old woman presented with throat and inner ear pain and was found to have a nasopharyngeal mass. Biopsy highlighted a spindle cell neoplasm composed of bland cells arranged in a tight storiform pattern. On immunohistochemistry, the tumor cells were focally positive for S100 in a fibrillary pattern but were also positive for high molecular weight cytokeratin, p40, and CD34. RNA sequencing demonstrated a FUS::NACC1 fusion. The patient remains free of disease 2 years after surgical resection.
conclusionThese findings confirm the previously-reported recurrent storiform histology in sarcomas with EWSR1/FUS::NACC1 fusion while simultaneously expanding the immunohistochemical spectrum of this entity to include overt epithelial differentiation. With involvement of a head and neck mucosal site, these findings also expand the differential diagnosis to include multiple mesenchymal entities including spindle cell squamous cell carcinoma. Further recognition of this emerging entity via expanded RNA sequencing panels will be necessary to determine the prevalence of these unique features.
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