Soňa Huľová, Zuzana Syčová-Milá, Dušan Macák, Pavol Janega, Michal Chovanec, Jozef Mardiak, Michal Mego


Background: Epithelioid angiomyolipoma (EAML) of the kidney, in contrast to classic benign renal angiomyolipoma, is a rare mesenchymal neoplasm with malignant potential. Representing a member of the PEComa tumour family arising from the perivascular epithelioid cells, its accurate diagnosis and therapeutic approach remains challenging.

Methods: We report a case of a patient  with malignant EAML, initially treated as renal cell carcinoma at our institution. In this paper, we briefly summarize current status of clinical and histopathological knowledge of  renal PEComas with metastatic potential, and reconsider the diagnostic and therapeutic approach in this particular case, to highlight the risk of misdiagnosis, malignant potential of renal PEComas and to demonstrate an unexpected treatment response.

Results: The patient in our case was diagnosed with chromophobe renal cell carcinoma with sarcomatoid features and underwent a radical nephrectomy and epinephrectomy. Local reccurence urged the chemotherapy commencement with sunitinib in the first-line, and shortly afterwards, the patient was enrolled in a clinical trial with everolimus, with an extraordinary favorable treatment response for 30months. Following the extirpation of single abdominal nodularity after 36months of treatment with mTOR inhibitor, and proceeding the everolimus administration, the disease slowly progressed to the right liver lobe, resulting in right hemihepatectomy in another 24 months. Immunoprofile of liver metastases with positive staining of melanoma markers and smooth muscle markers, induced the revaluation of primary tumour and abdominal nodularity specimen to an invasive epithelioid angiomyolipoma of the kidney. Further disease progression was unavoidable despite of several chemotherapy regimens and the patient deceased 104 months after primary diagnosis. 

Conclusions: Renal tumours with adverse radiographic and histopathological features should become candidates for immunohistochemical staining as its omission frequently leads to a misdiagnosis. Moreover, we encourage a susceptible observation of the disease course and extraordinary treatment response which may point out the possible diagnostic error.

Klíčová slova

renal PEComa, epithelioid angiomyolipoma, diagnosis, everolimus

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