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Radiology
Renal Ewing sarcoma with extensive metastasis diagnosed via pulmonary thrombus
  1. Coplen D Johnson1,
  2. Shivam S Shah1,
  3. Eric Wallace2 and
  4. Chaitanya Ahuja3
  1. 1Department of Radiology, LSU Health Shreveport School of Medicine, Shreveport, Louisiana, USA
  2. 2Department of Radiology, Ochsner LSU Health Shreveport—Academic Medical Center, Shreveport, Louisiana, USA
  3. 3Department of Interventional Radiology, Ochsner LSU Health Shreveport—Academic Medical Center, Shreveport, Louisiana, USA
  1. Correspondence to Mr Coplen D Johnson; cdj002{at}lsuhs.edu

Abstract

Primary Ewing sarcoma of the kidney (ESK) is a rare and aggressive malignancy often misdiagnosed as renal cell carcinoma (RCC) due to non-specific radiological features. Accurate diagnosis requires histology, immunohistochemistry (IHC) and molecular studies. We report the case of a female in her 20s presenting with abdominal pain, haematuria and weight loss, initially diagnosed with RCC. Imaging revealed a large renal mass and pulmonary embolus. Mechanical thrombectomy (MT) was performed, and biopsy of the pulmonary thrombus confirmed metastatic ESK through IHC and next-generation sequencing, identifying the EWSR1–FLI1 gene fusion. The patient was treated with neoadjuvant chemotherapy (NAC) and interventional procedures. This case highlights the importance of considering ESK in differential diagnoses of renal masses and the utility of MT in obtaining diagnostic tissue, which allowed for the timely initiation of NAC and improved clinical management.

  • Immunohistochemistry
  • Chemotherapy
  • Radiology
  • Pathology
  • Urological cancer

https://doi.org/10.1136/bcr-2024-263370

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    Footnotes

    • Contributors EW designed this case report. CJ collected the case report information. CJ, SSS and EW drafted the manuscript. CA critically revised the manuscript. All authors reviewed and approved the final version of the manuscript. CJ is the guarantor of this work.

    • 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.