CASE REPORT
Renal cell carcinoma or angiomyolipoma – diagnostic and therapeutic dilemmas in a 17-year-old female patient with tuberous sclerosis complex
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
Submission date: 2022-06-04
Final revision date: 2023-06-02
Acceptance date: 2023-07-07
Publication date: 2023-12-15
Corresponding author
Piotr Skrzypczyk
Piotr Skrzypczyk, MD, PhD, Department of Paediatrics and Nephrology, Medical University of Warsaw, Warsaw, Poland
Piotr Skrzypczyk, MD, PhD, Department of Paediatrics and Nephrology, Medical University of Warsaw, Warsaw, Poland
Pediatr Pol 2023;98(4):343-348
KEYWORDS
TOPICS
ABSTRACT
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.
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