{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,2]],"date-time":"2026-11-02T17:21:24Z","timestamp":1793640084382,"version":"4.5.1"},"reference-count":29,"publisher":"Springer Science and Business Media LLC","issue":"9","license":[{"start":{"date-parts":[[2024,5,8]],"date-time":"2024-05-08T00:00:00Z","timestamp":1715126400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2024,5,8]],"date-time":"2024-05-08T00:00:00Z","timestamp":1715126400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Nat Rev Urol"],"published-print":{"date-parts":[[2024,9]]},"DOI":"10.1038\/s41585-024-00874-y","type":"journal-article","created":{"date-parts":[[2024,5,8]],"date-time":"2024-05-08T07:01:53Z","timestamp":1715151713000},"page":"565-571","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Centralization of care for rare genetic syndromes associated with cancer: improving outcomes and advancing research on VHL disease"],"prefix":"10.1038","volume":"21","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5005-589X","authenticated-orcid":false,"given":"Alessandro","family":"Larcher","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federico","family":"Belladelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Cei","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Re","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isaline","family":"Rowe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Montorsi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9225-1795","authenticated-orcid":false,"given":"Umberto","family":"Capitanio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0595-7165","authenticated-orcid":false,"given":"Andrea","family":"Salonia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,5,8]]},"reference":[{"key":"874_CR1","unstructured":"Orphanet An online rare disease and orphan drug data base. \u00a9 INSERM 1999. Available on http:\/\/www.orpha.net. (2023). Accessed on 27 December 2023."},{"key":"874_CR2","doi-asserted-by":"publisher","first-page":"885","DOI":"10.1002\/ajmg.a.61124","volume":"179","author":"CR Ferreira","year":"2019","unstructured":"Ferreira, C. R. The burden of rare diseases. Am. J. Med. Genet. A 179, 885\u2013892 (2019).","journal-title":"Am. J. Med. Genet. A"},{"key":"874_CR3","doi-asserted-by":"publisher","first-page":"1868","DOI":"10.1056\/NEJMoa2035790","volume":"385","author":"100,000 Genomes Project Pilot Investigators.","year":"2021","unstructured":"100,000 Genomes Project Pilot Investigators. et al. 100,000 genomes pilot on rare-disease diagnosis in health care \u2014 preliminary report. N. Engl. J. Med. 385, 1868\u20131880 (2021).","journal-title":"N. Engl. J. Med."},{"key":"874_CR4","doi-asserted-by":"publisher","first-page":"1146","DOI":"10.1200\/JCO.19.02263","volume":"38","author":"MW Ball","year":"2020","unstructured":"Ball, M. W. et al. Growth rates of genetically defined renal tumors: implications for active surveillance and intervention. J. Clin. Oncol. 38, 1146\u20131153 (2020).","journal-title":"J. Clin. Oncol."},{"key":"874_CR5","doi-asserted-by":"publisher","first-page":"399","DOI":"10.1016\/j.eururo.2022.03.006","volume":"82","author":"B Ljungberg","year":"2022","unstructured":"Ljungberg, B. et al. European Association of Urology guidelines on renal cell carcinoma: the 2022 update. Eur. Urol. 82, 399\u2013410 (2022).","journal-title":"Eur. Urol."},{"key":"874_CR6","doi-asserted-by":"publisher","first-page":"107","DOI":"10.1038\/nature19795","volume":"539","author":"H Cho","year":"2016","unstructured":"Cho, H. et al. On-target efficacy of a HIF-2\u03b1 antagonist in preclinical kidney cancer models. Nature 539, 107\u2013111 (2016).","journal-title":"Nature"},{"key":"874_CR7","doi-asserted-by":"publisher","first-page":"611","DOI":"10.1016\/j.cell.2018.02.020","volume":"173","author":"TJ Mitchell","year":"2018","unstructured":"Mitchell, T. J. et al. Timing the landmark events in the evolution of clear cell renal cell cancer: TRACERx renal. Cell 173, 611\u2013614.e17 (2018).","journal-title":"Cell"},{"key":"874_CR8","doi-asserted-by":"publisher","first-page":"83","DOI":"10.1007\/BF01994821","volume":"59","author":"E von Hippel","year":"1904","unstructured":"von Hippel, E. \u00dcber eine sehr seltene Erkrankung der Netzhant. Graefes Arch. Clin. Exp. Ophthalmol. 59, 83\u2013106 (1904).","journal-title":"Graefes Arch. Clin. Exp. Ophthalmol."},{"key":"874_CR9","doi-asserted-by":"publisher","first-page":"193","DOI":"10.1111\/j.1755-3768.1926.tb07786.x","volume":"4","author":"A LINDAU","year":"1926","unstructured":"LINDAU, A. Zur Frage der Angiomatosis retin\u00e6 und ihrer Hirnkomplikationen. Acta Ophthalmol. 4, 193\u2013226 (1926).","journal-title":"Acta Ophthalmol."},{"key":"874_CR10","doi-asserted-by":"publisher","first-page":"2059","DOI":"10.1016\/S0140-6736(03)13643-4","volume":"361","author":"RR Lonser","year":"2003","unstructured":"Lonser, R. R. et al. Von Hippel-Lindau disease. Lancet 361, 2059\u20132067 (2003).","journal-title":"Lancet"},{"key":"874_CR11","doi-asserted-by":"publisher","first-page":"31","DOI":"10.1097\/MOU.0000000000000950","volume":"32","author":"A Larcher","year":"2022","unstructured":"Larcher, A. et al. Von Hippel-Lindau disease-associated renal cell carcinoma: a call to action. Curr. Opin. Urol. 32, 31\u201339 (2022).","journal-title":"Curr. Opin. Urol."},{"key":"874_CR12","doi-asserted-by":"publisher","first-page":"104538","DOI":"10.1016\/j.ejmg.2022.104538","volume":"65","author":"MLM Binderup","year":"2022","unstructured":"Binderup, M. L. M. et al. Von Hippel-Lindau disease: updated guideline for diagnosis and surveillance. Eur. J. Med. Genet. 65, 104538 (2022).","journal-title":"Eur. J. Med. Genet."},{"key":"874_CR13","doi-asserted-by":"publisher","first-page":"1351","DOI":"10.1016\/S1470-2045(18)30487-X","volume":"19","author":"E Jonasch","year":"2018","unstructured":"Jonasch, E. et al. Pazopanib in patients with von Hippel-Lindau disease: a single-arm, single-centre, phase 2 trial. Lancet Oncol. 19, 1351\u20131359 (2018).","journal-title":"Lancet Oncol."},{"key":"874_CR14","doi-asserted-by":"publisher","first-page":"2036","DOI":"10.1056\/NEJMoa2103425","volume":"385","author":"E Jonasch","year":"2021","unstructured":"Jonasch, E. et al. Belzutifan for renal cell carcinoma in von Hippel-Lindau disease. N. Engl. J. Med. 385, 2036\u20132046 (2021).","journal-title":"N. Engl. J. Med."},{"key":"874_CR15","doi-asserted-by":"publisher","first-page":"1023","DOI":"10.1016\/j.eururo.2019.02.031","volume":"75","author":"A Larcher","year":"2019","unstructured":"Larcher, A. et al. The ERUS curriculum for robot-assisted partial nephrectomy: structure definition and pilot clinical validation. Eur. Urol. 75, 1023\u20131031 (2019).","journal-title":"Eur. Urol."},{"key":"874_CR16","doi-asserted-by":"publisher","first-page":"676","DOI":"10.1016\/j.eururo.2015.07.003","volume":"69","author":"A Larcher","year":"2016","unstructured":"Larcher, A. et al. Prediction of complications following partial nephrectomy: implications for ablative techniques candidates. Eur. Urol. 69, 676\u2013682 (2016).","journal-title":"Eur. Urol."},{"key":"874_CR17","doi-asserted-by":"publisher","first-page":"383","DOI":"10.1007\/s00345-015-1606-4","volume":"34","author":"A Larcher","year":"2015","unstructured":"Larcher, A. et al. Comparison of renal function detriments after local tumor ablation or partial nephrectomy for renal cell carcinoma. World J. Urol. 34, 383\u2013389 (2015).","journal-title":"World J. Urol."},{"key":"874_CR18","doi-asserted-by":"publisher","first-page":"11","DOI":"10.1136\/jmedgenet-2016-104058","volume":"54","author":"MLM Binderup","year":"2017","unstructured":"Binderup, M. L. M., Jensen, A. M., Budtz-J\u00f8rgensen, E. & Bisgaard, M. L. Survival and causes of death in patients with von Hippel-Lindau disease. J. Med. Genet. 54, 11\u201318 (2017).","journal-title":"J. Med. Genet."},{"key":"874_CR19","doi-asserted-by":"publisher","unstructured":"Larcher A. et al. Removing barriers to the use of systemic agents for patients with von Hippel-Lindau disease. Eur. Urol. Oncol. https:\/\/doi.org\/10.1016\/j.euo.2024.01.003 (2024).","DOI":"10.1016\/j.euo.2024.01.003"},{"key":"874_CR20","doi-asserted-by":"publisher","first-page":"61","DOI":"10.1016\/j.euo.2018.01.001","volume":"1","author":"A Larcher","year":"2018","unstructured":"Larcher, A. et al. Is robot-assisted surgery contraindicated in the case of partial nephrectomy for complex tumours or relevant comorbidities? A comparative analysis of morbidity, renal function, and oncologic outcomes. Eur. Urol. Oncol. 1, 61\u201368 (2018).","journal-title":"Eur. Urol. Oncol."},{"key":"874_CR21","first-page":"e137","volume":"19","author":"F Cei","year":"2012","unstructured":"Cei, F. et al. Pre-operative risk calculator for the probability of completing nephron sparing for kidney cancer. Eur. Urol. Open Sci. 19, e137\u2013e138 (2012).","journal-title":"Eur. Urol. Open Sci."},{"key":"874_CR22","doi-asserted-by":"publisher","first-page":"435","DOI":"10.1016\/j.eururo.2011.10.025","volume":"61","author":"A Kutikov","year":"2012","unstructured":"Kutikov, A. et al. Academic ranking score: a publication-based reproducible metric of thought leadership in urology. Eur. Urol. 61, 435\u2013439 (2012).","journal-title":"Eur. Urol."},{"key":"874_CR23","doi-asserted-by":"publisher","first-page":"598","DOI":"10.1200\/JCO.2016.68.3805","volume":"35","author":"RS Go","year":"2017","unstructured":"Go, R. S. et al. Association between treatment facility volume and mortality of patients with multiple myeloma. J. Clin. Oncol. 35, 598\u2013604 (2017).","journal-title":"J. Clin. Oncol."},{"key":"874_CR24","doi-asserted-by":"publisher","first-page":"339.e17","DOI":"10.1016\/j.urolonc.2018.04.009","volume":"36","author":"S Arora","year":"2018","unstructured":"Arora, S., Keeley, J., Pucheril, D., Menon, M. & Rogers, C. G. What is the hospital volume threshold to optimize inpatient complication rate after partial nephrectomy? Urol. Oncol. 36, 339.e17\u2013339.e23 (2018).","journal-title":"Urol. Oncol."},{"key":"874_CR25","doi-asserted-by":"publisher","first-page":"253","DOI":"10.1016\/j.eururo.2018.08.042","volume":"75","author":"A Larcher","year":"2019","unstructured":"Larcher, A. et al. The learning curve for robot-assisted partial nephrectomy: impact of surgical experience on perioperative outcomes. Eur. Urol. 75, 253\u2013256 (2019).","journal-title":"Eur. Urol."},{"key":"874_CR26","doi-asserted-by":"publisher","first-page":"2137","DOI":"10.1681\/ASN.2021010082","volume":"32","author":"BM Pockros","year":"2021","unstructured":"Pockros, B. M., Finch, D. J. & Weiner, D. E. Dialysis and total health care costs in the united states and worldwide: the financial impact of a single-payer dominant system in the US. J. Am. Soc. Nephrol. 32, 2137\u20132139 (2021).","journal-title":"J. Am. Soc. Nephrol."},{"key":"874_CR27","doi-asserted-by":"publisher","first-page":"4991","DOI":"10.1200\/JCO.2004.05.061","volume":"22","author":"WY Kim","year":"2004","unstructured":"Kim, W. Y. & Kaelin, W. G. Role of VHL gene mutation in human cancer. J. Clin. Oncol. 22, 4991\u20135004 (2004).","journal-title":"J. Clin. Oncol."},{"key":"874_CR28","doi-asserted-by":"publisher","first-page":"2851","DOI":"10.1210\/jc.2005-2178","volume":"91","author":"C Jim\u00e9nez","year":"2006","unstructured":"Jim\u00e9nez, C., Cote, G., Arnold, A. & Gagel, R. F. Review: should patients with apparently sporadic pheochromocytomas or paragangliomas be screened for hereditary syndromes? J. Clin. Endocrinol. Metab. 91, 2851\u20132858 (2006).","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"874_CR29","doi-asserted-by":"publisher","first-page":"575","DOI":"10.3389\/fendo.2020.575620","volume":"11","author":"PD Chatani","year":"2021","unstructured":"Chatani, P. D., Agarwal, S. K. & Sadowski, S. M. Molecular signatures and their clinical utility in pancreatic neuroendocrine tumors. Front. Endocrinol. 11, 575620 (2021).","journal-title":"Front. Endocrinol."}],"container-title":["Nature Reviews Urology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/s41585-024-00874-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41585-024-00874-y","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41585-024-00874-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,9,4]],"date-time":"2024-09-04T09:08:07Z","timestamp":1725440887000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s41585-024-00874-y"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,5,8]]},"references-count":29,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2024,9]]}},"alternative-id":["874"],"URL":"https:\/\/doi.org\/10.1038\/s41585-024-00874-y","relation":{},"ISSN":["1759-4812","1759-4820"],"issn-type":[{"value":"1759-4812","type":"print"},{"value":"1759-4820","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,5,8]]},"assertion":[{"value":"15 March 2024","order":1,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"8 May 2024","order":2,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare a restricted research grant from VHL Alliance to support the project \u201cInvestigation of treatment targets and tumour heterogeneity in Von Hippel\u2013Lindau (VHL)-related renal cancer\u201d, a restricted research grant from the Italian Ministry of Health and the European Union for the project \u201cOvertaking Intra and Inter Tumoral Heterogeneity In Von Hippel\u2013Lindau related Renal Cancer\u201d (PNRR-MR1-2022-12375818), a restricted research grant from the Italian Ministry of Health and the European Union for the project \u201cCAT-VHL - Exploring the role of Carbonic Anhydrase IX as diagnostic and Theranostic target in Von-Hippel Lindau disease\u201d (PNRR-POC-2023-12377493), a restricted research grant from Intuitive Foundation for the project \u201cDoes robotics allow for shorter surgical learning than laparoscopy? A comparison analysis from a large, multi-institutional series of patients treated with partial nephrectomy\u201d. In addition, A.L. declares consulting activity for Telix Pharmaceuticals and Merck Sharp & Dohme.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}]}}