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.

希佩尔-林道 (VHL) 病是一种罕见的遗传综合征，由一个 VHL 等位基因的种系致病性变异引起。任何破坏其他等位基因的体细胞事件都会导致 VHL 蛋白 (pVHL) 功能丧失，最终导致患者在多个时间点在多个器官中出现多个肿瘤，并缩短预期寿命。这种复杂、罕见疾病的治疗往往是分散的，因为患者会在不同的医疗中心隔离地去看专科临床医生。因此，患者可能会接受次优的治疗，从而导致生活质量下降和医疗保健系统体验不佳。 2021年，我们在米兰圣拉斐尔医院建立了综合临床中心，专门研究VHL疾病。该中心提供一个结构化的项目，用于患者的诊断、监测和治疗以及 VHL 疾病的研究，并由一支由专业医生组成的多学科团队组成。该计划展示了护理集中化的好处，包括知识和服务的集中、协同和多学科管理、改善网络和患者资源、降低医疗保健成本以及促进研究和创新。 VHL 疾病提供了一个理想的模型来评估罕见疾病集中护理的优势，并为拓宽我们对癌症生物学的总体理解提供了无与伦比的机会。