Alessandro Larcher, Federico Belladelli, Francesco Cei, Chiara Re, Isaline Rowe, Francesco Montorsi, Umberto Capitanio, Andrea Salonia
{"title":"集中治疗与癌症相关的罕见遗传综合征:改善疗效并推进 VHL 疾病研究","authors":"Alessandro Larcher, Federico Belladelli, Francesco Cei, Chiara Re, Isaline Rowe, Francesco Montorsi, Umberto Capitanio, Andrea Salonia","doi":"10.1038/s41585-024-00874-y","DOIUrl":null,"url":null,"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. In this Perspective, Larcher et al. describe a dedicated treatment programme for Von Hippel–Lindau disease established at San Raffaele Hospital, which encompasses diagnosis, surveillance, treatment, research and outreach. The authors then discuss the benefits of care centralization for Von Hippel–Lindau disease and other rare diseases.","PeriodicalId":19088,"journal":{"name":"Nature Reviews Urology","volume":"21 9","pages":"565-571"},"PeriodicalIF":12.1000,"publicationDate":"2024-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Centralization of care for rare genetic syndromes associated with cancer: improving outcomes and advancing research on VHL disease\",\"authors\":\"Alessandro Larcher, Federico Belladelli, Francesco Cei, Chiara Re, Isaline Rowe, Francesco Montorsi, Umberto Capitanio, Andrea Salonia\",\"doi\":\"10.1038/s41585-024-00874-y\",\"DOIUrl\":null,\"url\":null,\"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. In this Perspective, Larcher et al. describe a dedicated treatment programme for Von Hippel–Lindau disease established at San Raffaele Hospital, which encompasses diagnosis, surveillance, treatment, research and outreach. 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Centralization of care for rare genetic syndromes associated with cancer: improving outcomes and advancing research on VHL disease
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. In this Perspective, Larcher et al. describe a dedicated treatment programme for Von Hippel–Lindau disease established at San Raffaele Hospital, which encompasses diagnosis, surveillance, treatment, research and outreach. The authors then discuss the benefits of care centralization for Von Hippel–Lindau disease and other rare diseases.
期刊介绍:
Nature Reviews Urology is part of the Nature Reviews portfolio of journals.Nature Reviews' basic, translational and clinical content is written by internationally renowned basic and clinical academics and researchers. This journal targeted readers in the biological and medical sciences, from the postgraduate level upwards, aiming to be accessible to professionals in any biological or medical discipline.
The journal features authoritative In-depth Reviews providing up-to-date information on topics within a field's history and development. Perspectives, News & Views articles, and the Research Highlights section offer topical discussions and opinions, filtering primary research from various medical journals.
Covering a wide range of subjects, including andrology, urologic oncology, and imaging, Nature Reviews provides valuable insights for practitioners, researchers, and academics within urology and related fields.