Abstract
Von Hippel–Lindau (VHL) disease is a rare genetic syndrome caused by a germline pathogenic variant in one VHL allele. Any somatic event disrupting the other allele induces VHL protein (pVHL) loss of function, ultimately leading to patients developing multiple tumours in multiple organs at multiple timepoints, and reducing life expectancy. Treatment of this complex, rare disease is often fragmented, as patients visit specialist clinicians in isolation at different medical centres. Consequently, patients can receive sub-optimal treatment that results in decreased quality of life and a poor experience of health care systems. In 2021, we established a comprehensive clinical centre at San Raffaele Hospital, Milan, devoted to VHL disease. The centre provides a structured programme for the diagnosis, surveillance and treatment of patients alongside research into VHL disease and involves a multidisciplinary team of dedicated physicians. This programme demonstrates the benefits of care centralization, including concentration of knowledge and services, synergy and multidisciplinary management, improved networking and patient resources, reducing health care costs, and fostering research and innovation. VHL disease provides an ideal model to assess the advantages of centralizing care for rare disease and represents an unparalleled opportunity to broaden our understanding of cancer biology in general.
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Acknowledgements
The authors would like to thank the many clinicians and researchers who work as part of the San Raffaele VHL programme, whose efforts and collaboration are vital to the success of the programme, including M. Ponzoni, R. Lucianò, M. Santangelo, N. Tenace, A. Giustina, L. Castellino, R. Galli, M. Falconi, S. Partelli, S. Crippa, F. Muffatti, G. Guarneri, D. Di Napoli, P. Carrera, M. Grazia Patricelli, G. B. Pipitone, A. Russo Raucci, M. Locatelli, L. Soldini, A. Naclerio, G. Pizzagalli, P. Mortini, J. F. Capitanio, M. Bailo, A. Falini, S. Calloni, M. Barbera, F. Bandello, R. Lattanzio, E. Bruschi, L. Cancellieri, A. Necchi, V. Di Mattei, S. Clerici, F. De Cobelli, R. Mellone, G. Brembilla, G. Guazzarotti, A. Chiti, M. Sollini, L. Antunovic, F. Gelardi, R. Bertini, G. Musso, L. Salerno, F. Corea, C. Carenzi, D. Canibus, A. M. Ferrara, I. Franco, A. R. Battista, L. Piccioni, F. Beltrando, E. Papaleo, V. S. Vanni, M. T. Sciarrone Alibrandi, M. Catania, K. Kola and L. De Rosa.
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All authors made a substantial contribution to discussion of content. A.L., F.B., F.C. and C.R. wrote the manuscript, and I.R., F.M., U.C. and A.S. reviewed and/or edited the manuscript before submission.
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The authors declare a restricted research grant from VHL Alliance to support the project “Investigation of treatment targets and tumour heterogeneity in Von Hippel–Lindau (VHL)-related renal cancer”, a restricted research grant from the Italian Ministry of Health and the European Union for the project “Overtaking Intra and Inter Tumoral Heterogeneity In Von Hippel–Lindau related Renal Cancer” (PNRR-MR1-2022-12375818), a restricted research grant from the Italian Ministry of Health and the European Union for the project “CAT-VHL - Exploring the role of Carbonic Anhydrase IX as diagnostic and Theranostic target in Von-Hippel Lindau disease” (PNRR-POC-2023-12377493), a restricted research grant from Intuitive Foundation for the project “Does robotics allow for shorter surgical learning than laparoscopy? A comparison analysis from a large, multi-institutional series of patients treated with partial nephrectomy”. In addition, A.L. declares consulting activity for Telix Pharmaceuticals and Merck Sharp & Dohme.
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Nature Reviews Urology thanks Kan Gong, who co-reviewed with Jingcheng Zhou; and the other, anonymous, reviewer(s) for their contribution to the peer review of this work.
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Clinical Care Centers: https://www.vhl.org/care-treatment/clinical-care-centers/
European reference networks: https://health.ec.europa.eu/european-reference-networks/overview_en
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Larcher, A., Belladelli, F., Cei, F. et al. Centralization of care for rare genetic syndromes associated with cancer: improving outcomes and advancing research on VHL disease. Nat Rev Urol (2024). https://doi.org/10.1038/s41585-024-00874-y
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DOI: https://doi.org/10.1038/s41585-024-00874-y
