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Erschienen in:
30.03.2022 | Sine qua non Clinicopathologic Correlat
Epithelioid and Spindle Cell Rhabdomyosarcoma of the Oral Mucosa with FUS Rearrangement
Erschienen in: Head and Neck Pathology | Ausgabe 3/2022
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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.