{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,27]],"date-time":"2026-06-27T23:46:46Z","timestamp":1782604006695,"version":"3.54.5"},"reference-count":4,"publisher":"BMJ","issue":"3","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2021,2,10]]},"published-print":{"date-parts":[[2021,3]]},"abstract":"<jats:p>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.<\/jats:p>","DOI":"10.1136\/bcr-2020-239331","type":"journal-article","created":{"date-parts":[[2021,3,10]],"date-time":"2021-03-10T11:56:02Z","timestamp":1615377362000},"page":"e239331","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Fumarate hydratase-deficient renal cell carcinoma presenting as pelvicalyceal filling defect: an unusual presentation of a rare disease"],"prefix":"10.1136","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5115-390X","authenticated-orcid":false,"given":"Aiyapa","family":"Ajjikuttira","sequence":"first","affiliation":[{"name":"Department of Urology, Princess Alexandra Hospital, Brisbane, Queensland, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3743-2953","authenticated-orcid":false,"given":"Pranav","family":"Sharma","sequence":"additional","affiliation":[{"name":"Department of Urology, Princess Alexandra Hospital, Brisbane, Queensland, Australia"},{"name":"Faculty of Medicine, The University of Queensland, Brisbane, Queensland, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andre","family":"Joshi","sequence":"additional","affiliation":[{"name":"Department of Urology, Princess Alexandra Hospital, Brisbane, Queensland, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Handoo","family":"Rhee","sequence":"additional","affiliation":[{"name":"Department of Urology, Princess Alexandra Hospital, Brisbane, Queensland, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2021,3,10]]},"reference":[{"key":"2025082722013446000_14.3.e239331.1","doi-asserted-by":"publisher","DOI":"10.1007\/s10689-014-9735-2"},{"key":"2025082722013446000_14.3.e239331.2","doi-asserted-by":"publisher","DOI":"10.1007\/s10689-009-9306-0"},{"key":"2025082722013446000_14.3.e239331.3","doi-asserted-by":"publisher","DOI":"10.1007\/s10689-011-9428-z"},{"key":"2025082722013446000_14.3.e239331.4","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2010.01486.x"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2020-239331","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T05:01:43Z","timestamp":1756357303000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2020-239331"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,3]]},"references-count":4,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2021,3,10]]},"published-print":{"date-parts":[[2021,3]]}},"alternative-id":["10.1136\/bcr-2020-239331"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2020-239331","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,3]]}}}