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Case Reports: Unusual presentation of more common disease/injury
Extrarenal rhabdoid tumour of axillary soft tissue: a diagnostic challenge resolved by immunohistochemistry
  1. Archana Chirag Buch,
  2. Gayatri Bhuibhar,
  3. Mangesh Londhe,
  4. Sargam Dhaliwal and
  5. Sushama Gurwale
  1. Department of Pathology, Dr D Y Patil Medical College Hospital and Research Centre, Dr D Y Patil Vidyapeeth, Pune, Maharashtra, India
  1. Correspondence to Dr Sargam Dhaliwal; sargam.dhaliwal{at}gmail.com

Abstract

Extrarenal rhabdoid tumour of soft tissue in children is a rare tumour associated with poor prognosis. It is a heterogeneous group of aggressive tumours with distinct histopathological and immunohistochemistry findings. The tumour is characterised by diffuse proliferation of rhabdoid cells with hyaline like inclusion bodies. Defining feature is aberration of INI1/SMARCB1 gene located at chromosome 22q11.2. We report one such rare case in a female infant presenting as left axillary mass.

  • Pathology
  • Paediatric oncology

https://doi.org/10.1136/bcr-2022-254438

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    Footnotes

    • Contributors ACB, GB and ML contributed to the conception or design of the work, acquisition, analysis or interpretation of data for the work. ML, SD and SG contributed to drafting the work and revising it critically for important intellectual content. All authors contributed equally to final approval of the version to be published. All authors agreed to be accountable for all aspects of the work and worked in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.

    • 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.

    • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

    • Competing interests None declared.

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