Fumarate hydratase-deficient renal cell carcinoma presenting as pelvicalyceal filling defect: an unusual presentation of a rare disease

Aiyapa Ajjikuttira; Pranav Sharma; Andre Joshi; Handoo Rhee

doi:10.1136/bcr-2020-239331

Fumarate hydratase-deficient renal cell carcinoma presenting as pelvicalyceal filling defect: an unusual presentation of a rare disease

BMJ Case Rep. 2021 Mar 10;14(3):e239331. doi: 10.1136/bcr-2020-239331.

Authors

Aiyapa Ajjikuttira¹, Pranav Sharma^{2

3}, Andre Joshi², Handoo Rhee²

Affiliations

¹ Department of Urology, Princess Alexandra Hospital, Brisbane, Queensland, Australia aiyapa.ajjikuttira@health.qld.gov.au.
² Department of Urology, Princess Alexandra Hospital, Brisbane, Queensland, Australia.
³ Faculty of Medicine, The University of Queensland, Brisbane, Queensland, Australia.

Abstract

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.

Keywords: cancer intervention; urological surgery; urology.

Publication types

Case Reports

MeSH terms

Aged
Carcinoma, Renal Cell* / diagnostic imaging
Carcinoma, Renal Cell* / surgery
Carcinoma, Transitional Cell* / diagnostic imaging
Carcinoma, Transitional Cell* / surgery
Fumarate Hydratase / genetics
Humans
Kidney Neoplasms* / diagnostic imaging
Kidney Neoplasms* / surgery
Male
Rare Diseases

Substances

Fumarate Hydratase