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Sinonasal alveolar rhabdomyosarcoma with PAX3::NCOA1 fusion expressing SOX10 and with nodal metastases: a double diagnostic pitfall
  1. Hannah Crane1,2,
  2. Robin J Young3,
  3. Malee S Fernando2,
  4. Jon Griffin1,2
  1. 1School of Medicine and Population Health, The University of Sheffield, Sheffield, UK
  2. 2Histopathology, Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield, UK
  3. 3Weston Park Cancer Centre, Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield, UK
  1. Correspondence to Dr Jon Griffin, School of Medicine and Population Health, The University of Sheffield, Sheffield, UK; Jonathan.griffin{at}sheffield.ac.uk

https://doi.org/10.1136/jcp-2024-209640

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    A 57-year-old man presented with prominent lymph nodes in the neck. Cross-sectional imaging demonstrated enlarged cervical lymph nodes, a unilateral nasal cavity tumour with extension into the ethmoid and maxillary sinuses, and widespread bone metastases. A biopsy of the nasal cavity tumour showed a poorly differentiated basaloid malignancy arranged in islands and strands (figure 1). A broad immunohistochemistry (IHC) panel was performed which demonstrated variable expression of SOX10 (figure 2) together with the expression of p16, CD56 and focally synaptophysin. The Ki67 labelling index approached 100%. No expression of AE1/AE3, CK5/6, CK7, CK20, 34βE12, p63, TTF-1, CD99, S100 or chromogranin was identified. INI-1 expression was retained. The poorly differentiated morphology and SOX10 expression led to an initial diagnosis of metastatic malignant melanoma by the head and neck pathology team. Additional IHC done after the sample was seen by the soft tissue pathologist confirmed expression of MyoD1 and myogenin indicating skeletal muscle differentiation (figure 2). Focal desmin expression was present. Smooth muscle actin and caldesmon were not expressed. RNA sequencing using an RNA fusion panel revealed a PAX3::NCOA1 fusion. The combined morphology and immunophenotype led to a revised diagnosis of alveolar rhabdomyosarcoma (ARMS), confirmed with the fusion protein, which significantly …

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    Footnotes

    • Handling editor Munita Bal.

    • Contributors All authors contributed to the conception, design and writing of this manuscript.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.