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Rare disease
CASE REPORT
Metachronous renal Ewing sarcoma/primitive neuroectodermal tumour in a survivor of Burkitt lymphoma
  1. Kumail Khandwala1,
  2. Kiran Hilal1,
  3. Zehra Fadoo2,
  4. Khurram Minhas3
  1. 1 Department of Radiology, Aga Khan University, Karachi, Pakistan
  2. 2 Department of Haematology and Oncology, Aga Khan University, Karachi, Pakistan
  3. 3 Department of Pathology and Laboratory Medicine, Aga Khan University, Karachi, Pakistan
  1. Correspondence to Dr. Kumail Khandwala, kumail.khandwala{at}gmail.com

Summary

We present a case of a 14-year-old girl who was diagnosed with Burkitt lymphoma in 2014. She was managed with chemotherapy and remained in remission for 3 years. On her surveillance imaging in 2017, a left-sided renal neoplastic mass was incidentally discovered. She underwent nephrectomy and pathology of the resected specimen revealed small cell tumour of the kidney with features favouring renal Ewing sarcoma/primitive neuroectodermal tumour. Molecular genetic analysis by fluorescence in situ hybridisation was performed which showed translocation of 22q12, thereby confirming the diagnosis. This is a rare secondary malignancy and an unusual association. This case highlights the importance and diagnostic dilemmas of rare secondary tumours in patients with such haematological malignancies and discusses its possible pathogenetic aspects.

  • radiology
  • pathology
  • urological cancer
  • paediatric oncology
  • chemotherapy

https://doi.org/10.1136/bcr-2017-224071

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    Footnotes

    • Contributors KK conceived the idea of the paper, performed literature review and wrote the manuscript. The radiology scans were reported by KH who helped with the selection of the images. ZF managed the patient clinically and was responsible for the molecular and genetic workup. KM diagnosed the case pathologically and provided histology images. All authors contributed to editing, refining and proofreading the entire document.

    • 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.

    • Patient consent Parental/guardian consent obtained.

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