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Epithelioid and Spindle Cell Rhabdomyosarcoma of the Oral Mucosa with FUS Rearrangement

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Abstract

The spectrum of rhabdomyosarcomas continues to expand beyond the more widely recognized embryonal and alveolar types as newer and novel subtypes are identified. These variants are typically classified on the basis of recurring mutations or translocations and frequently show distinctive clinical, morphologic and immunophenotypic features. A case of newly characterized FUS gene rearranged epithelioid and spindle cell rhabdomyosarcoma presenting as an intra-oral mucosal lesion without evidence of an osseous component is described. The characteristic features of an FET-TFCP2 fusion rhabdomyosarcoma were present, including strong pancytokeratin expression. This uncommon and aggressive entity displays a predilection for head and neck sites and familiarity may help avoid diagnostic pitfalls.

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Authors and Affiliations

  1. Head & Neck Pathology, Joint Pathology Center, 606 Stephen Sitter Ave, Silver Spring, MD, 20910-1290, USA

    Robert D. Foss

  2. Carl R. Darnall Army Medical Center, 36065 Santa Fe Ave, Fort Hood, TX, 76544-5060, USA

    Adam R. Ochsner

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  1. Adam R. Ochsner
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  2. Robert D. Foss
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Correspondence to Robert D. Foss.

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All procedures performed in studies involving human participants were in accordance with the ethical standards of the institution and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards. For this type of retrospective case report, formal consent is not required. The tumor tissue included in the manuscript was obtained as part of the standard of care for the patient and retrospectively collected for the case report.

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Ochsner, A.R., Foss, R.D. Epithelioid and Spindle Cell Rhabdomyosarcoma of the Oral Mucosa with FUS Rearrangement. Head and Neck Pathol 16, 823–827 (2022). https://doi.org/10.1007/s12105-022-01424-x

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  • DOI: https://doi.org/10.1007/s12105-022-01424-x

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