{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T00:04:30Z","timestamp":1756339470720,"version":"3.44.0"},"reference-count":12,"publisher":"BMJ","issue":"7","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2025,6,27]]},"published-print":{"date-parts":[[2025,7]]},"abstract":"<jats:p>Tuberous sclerosis complex (TSC) is a rare genetic disorder caused by variants in the TSC1 or TSC2 genes. This case report highlights two rare TSC manifestations: diffuse lipomatosis and low-grade oncocytic tumour (LOT), a newly recognised entity with low malignant potential.<\/jats:p>\n               <jats:p>A man in his 20s presented with renal tumours and diffuse lipomatosis of his left leg since his teenage years. Over the years, numerous biopsies and scans were conducted. The renal tumours were initially classified as chromophobe renal cell carcinomas, and the patient was scheduled for a nephrectomy. After finally diagnosing the tumours as LOT, he was instead managed with everolimus.<\/jats:p>\n               <jats:p>A TSC1 variant was identified. After extensive genetic testing, this variant was confirmed to cause TSC.<\/jats:p>\n               <jats:p>This case highlights the phenotypic diversity of TSC, with rare manifestations like diffuse lipomatosis and LOT. Comprehensive diagnostic techniques and multidisciplinary management are essential for accurate diagnosis and treatment of the diverse presentations of TSC.<\/jats:p>","DOI":"10.1136\/bcr-2025-265664","type":"journal-article","created":{"date-parts":[[2025,7,18]],"date-time":"2025-07-18T10:00:22Z","timestamp":1752832822000},"page":"e265664","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Rare manifestations of tuberous sclerosis complex: low-grade oncocytic tumour and diffuse lipomatosis"],"prefix":"10.1136","volume":"18","author":[{"given":"Astrid Kolind","family":"Christensen","sequence":"first","affiliation":[{"name":"Urology, Aarhus University Hospital, Aarhus, Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Louise Schmidt","family":"Iversen","sequence":"additional","affiliation":[{"name":"Pathology, Aarhus University Hospital, Aarhus, Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lise","family":"Graversen","sequence":"additional","affiliation":[{"name":"Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1407-6914","authenticated-orcid":false,"given":"Mia Gebauer","family":"Madsen","sequence":"additional","affiliation":[{"name":"Urology, Aarhus University Hospital, Aarhus, Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2025,7,18]]},"reference":[{"key":"2025082707405081000_18.7.e265664.1","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1016\/j.pediatrneurol.2021.07.010","article-title":"Beyond the Guidelines: How We Can Improve Healthcare for People With Tuberous Sclerosis Complex Around the World","volume":"123","author":"Stuart","year":"2021","journal-title":"Pediatr Neurol"},{"key":"2025082707405081000_18.7.e265664.2","doi-asserted-by":"crossref","unstructured":"Ilyas M , Quezada J , Opfer EK . Lipomatous Infiltration in Tuberous Sclerosis Complex - A Case Series and Literature Review. Child Neurol Open 2021;8. doi:10.1177\/2329048X211048065","DOI":"10.1177\/2329048X211048065"},{"key":"2025082707405081000_18.7.e265664.3","first-page":"405","article-title":"Low-grade oncocytic tumor (LOT) - a new renal entity ready for a prime time: An updated review","volume":"37","author":"Mansoor","year":"2022","journal-title":"Histol Histopathol"},{"key":"2025082707405081000_18.7.e265664.4","unstructured":"European Medicines Agency . Votubia. 2018. Available: https:\/\/www.ema.europa.eu\/en\/medicines\/human\/EPAR\/votubia [Accessed 29 Apr 2025]."},{"key":"2025082707405081000_18.7.e265664.5","doi-asserted-by":"publisher","DOI":"10.1016\/j.annonc.2024.05.537"},{"key":"2025082707405081000_18.7.e265664.6","doi-asserted-by":"publisher","DOI":"10.1038\/s41379-021-00896-6"},{"key":"2025082707405081000_18.7.e265664.7","doi-asserted-by":"publisher","DOI":"10.1111\/his.13865"},{"key":"2025082707405081000_18.7.e265664.8","doi-asserted-by":"crossref","DOI":"10.3390\/cancers15164043","article-title":"Recent Advances in Renal Tumors with TSC\/mTOR Pathway Abnormalities in Patients with Tuberous Sclerosis Complex and in the Sporadic Setting","volume":"15","author":"Kapur","year":"2023","journal-title":"Cancers (Basel)"},{"key":"2025082707405081000_18.7.e265664.9","doi-asserted-by":"publisher","DOI":"10.1016\/j.humpath.2021.04.013"},{"key":"2025082707405081000_18.7.e265664.10","first-page":"842","article-title":"LOT and HOT \u2026 or not. The proliferation of clinically insignificant and poorly characterised types of renal neoplasia","volume":"54","author":"Samaratunga","year":"2022","journal-title":"Pathology (Phila)"},{"key":"2025082707405081000_18.7.e265664.11","article-title":"Periodontoid Pseudotumor in Tuberous Sclerosis Associated With Neck Diffuse Lipomatosis","volume":"14","author":"Pinto","year":"2022","journal-title":"Cureus"},{"key":"2025082707405081000_18.7.e265664.12","unstructured":"Northrup H , Koenig MK , Pearson DA . Tuberous sclerosis complex. In: Adam MP , Feldman J , Mirzaa GM , eds. Genereviews. Seattle (WA): University of Washington, Seattle, 2025."}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2025-265664","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T14:40:59Z","timestamp":1756305659000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2025-265664"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,7]]},"references-count":12,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2025,7,18]]},"published-print":{"date-parts":[[2025,7]]}},"alternative-id":["10.1136\/bcr-2025-265664"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2025-265664","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2025,7]]}}}