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ISSN: 0031-3939
Pediatria Polska - Polish Journal of Paediatrics
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4/2023
vol. 98
 
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abstract:
Case report

Renal cell carcinoma or angiomyolipoma – diagnostic and therapeutic dilemmas in a 17-year-old female patient with tuberous sclerosis complex

Piotr Skrzypczyk
1
,
Kamil Ludwiniak
2
,
Anna Maria Wabik
1
,
Sergiusz Jóźwiak
3
,
Michał Brzewski
4
,
Jadwiga Małdyk
5
,
Małgorzata Pańczyk-Tomaszewska
1

  1. Department of Paediatrics and Nephrology, Medical University of Warsaw, Warsaw, Poland
  2. Department of Neurology, Medical University of Warsaw, Warsaw, Poland
  3. Department of Paediatric Neurology, Medical University of Warsaw, Warsaw, Poland
  4. Department of Paediatric Radiology, Medical University of Warsaw, Warsaw, Poland
  5. Department of Pathomorphology, Medical University of Warsaw, Warsaw, Poland
Pediatr Pol 2023; 98 (4): 343-348
DOI: https://doi.org/10.5114/polp.2023.133539
Online publish date: 2023/12/15
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We present a case of a 17-year-old girl with tuberous sclerosis complex (TSC) with suspicion of renal cell carcinoma in the left kidney. Pathomorphological examination revealed domination of fusiform cells, and foci of adipocytes with a tendency towards perivascular proliferation. Immunohistochemistry revealed a positive reaction for markers of angiomyolipoma (AML): SMA (smooth muscle actin), HMB-45 (Human Melanoma Black-45), and MelanA (melanocyte antigen), and negative reaction for markers of renal cell carcinoma. In addition, positive reaction for TFE3 (transcription factor binding to immunoglobulin heavy-chain enhancer 3) was found in nuclei. The tumour was classified as a lipid-poor AML, and treatment with rapamycin was started in the patient. To the best of our knowledge, this is the first renal AML in a TSC patient in whom nuclear expression of TFE3 was found. Differential diagnosis of lipid-poor renal lesions in TSC patients is a demanding challenge requiring a dedicated, experienced multidisciplinary team.
keywords:

immunohistochemistry, renal cell carcinoma, tuberous sclerosis complex, lipid-poor angiomyolipoma