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A 75-year-old man was referred to our urology service with painless haematuria. The delayed phase on a subsequent computed tomography (CT) abdomen and pelvis showed a filling defect in the left renal pelvicalyceal system, suspicious for a transitional cell carcinoma. The patient underwent ureteroscopic biopsy suggestive of a papillary neoplasia, before progressing to a laparoscopic radical left nephrouretectomy. Final histology revealed a fumarate hydratase-deficient renal cell carcinoma with clear margins. The patient was subsequently referred for genetic counselling. © BMJ Publishing Group Limited 2021. No commercial re-use. See rights and permissions. Published by BMJ.


Aiyapa Ajjikuttira, Pranav Sharma, Andre Joshi, Handoo Rhee. Fumarate hydratase-deficient renal cell carcinoma presenting as pelvicalyceal filling defect: an unusual presentation of a rare disease. BMJ case reports. 2021 Mar 10;14(3)

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PMID: 33692051

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