Von Hippel-Lindau病

定义 英文原文（暂无中文）

A familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma/paraganglioma.

别名

家族性小脑视网膜血管瘤病

基本事实

遗传方式

常染色体显性

发病年龄

青少年期、成年期、儿童期

患病率

1-9 / 100 000（United Kingdom）

相关基因 2

临床表型 41

近两年的全球研究 531L2

2024/08 起在 Europe PMC 检索所得，按发表时间倒序显示最近 20 篇。标题未译成中文——自动翻译需要接入 LLM 服务，尚未引入。

• 2026-07病例报告
  Repeated Renal Interventions for Renal Cell Carcinoma in von Hippel-Lindau Disease: Long-Term Outcomes
  European urology focus · DOI · Europe PMC
• 2026-07
  <i>VHL</i> gene fragment analysis: large inversion detection in <i>Alu</i> region for clinical applications
  Journal of medical genetics · DOI · Europe PMC
• 2026-07
  Epidemiology and clinical outcomes of von Hippel-Lindau disease in Korea: a nationwide cohort study
  Scientific reports · DOI · Europe PMC
• 2026-07病例报告
  Primary Cervicomedullary Hemangioblastoma with Extensive Caudal Cystic Extension into the Cervical Cord: A Case Report and Literature Review
  Journal of neurological surgery reports · DOI · Europe PMC
• 2026-07综述
  FROM DISCOVERY SCIENCE TO THE CLINIC - HERITABLE ENDOCRINE CANCERS AND RELATED DISORDERS: Functional imaging in hereditary endocrine neoplasms: evolving modalities and clinical implications
  Endocrine-related cancer · DOI · Europe PMC
• 2026-06病例报告
  Unusual cystic presentation of pheochromocytoma in a case of suspected von Hippel-Lindau disease
  Radiology case reports · DOI · Europe PMC
• 2026-06综述
  What should the urologist know on the management of kidney cancer in patients with Von Hippel-Lindau syndrome? Recommendations of the European Association of Urology (EAU) Young Academic Urologists (YAU) Renal Cancer Working Group
  World journal of urology · DOI · Europe PMC
• 2026-06
  Sandwich therapy combining photodynamic therapy and adjunctive anti-VEGF for juxtapapillary retinal capillary hemangioblastoma
  Graefe's archive for clinical and experimental ophthalmology = Albrech · DOI · Europe PMC
• 2026-06
  Endolymphatic sac tumors in a tertiary referral center: long-term outcomes and management of primary and salvage cases
  Neurosurgical review · DOI · Europe PMC
• 2026-06病例报告
  Pheochromocytoma and multicentric giant cell tumor of bone
  Archives of endocrinology and metabolism · DOI · Europe PMC
• 2026-06病例报告
  Jejunal Adenomatous Polyp Presenting as Intussusception in Peutz-Jeghers Syndrome With von Hippel-Lindau (VHL) Mutation Carrier Status
  Cureus · DOI · Europe PMC
• 2026-06综述开放获取
  Von Hippel-Lindau disease: pathophysiological and clinical advances
  Familial cancer · DOI · Europe PMC
• 2026-06
  [A case of von Hippel-Lindau disease showing characteristic progressive growth of multiple cerebellar hemangioblastomas]
  Rinsho shinkeigaku = Clinical neurology · DOI · Europe PMC
• 2026-06病例报告
  Unexpected aggressiveness in VHL-associated clear cell renal cell carcinoma: insights from two patients highlighting biological heterogeneity
  BMJ case reports · DOI · Europe PMC
• 2026-06综述开放获取
  Alternative Splicing in Human Viral Oncogenesis and Tumor Progression
  Cancers
• 2026-06开放获取
  Arterial Spin Labeling Magnetic Resonance Imaging Can Identify Posterior Fossa Hemangioblastoma: Comparison with Dynamic Susceptibility Contrast
  Cancers
• 2026-06开放获取
  The seventh kidney cancer research summit: progress in accelerating cures
  The oncologist · DOI · Europe PMC
• 2026-06开放获取
  Belzutifan efficacy in von Hippel-Lindau disease-associated renal cell carcinoma versus natural history control arm
  Journal of the National Cancer Institute · DOI · Europe PMC
• 2026-05综述开放获取
  Cancer Genetic Predisposition and Clinical Applications—A Narrative Review on Germline Genetic Testing, High-Risk Cancer Surveillance and Management
  Genes
• 2026-05开放获取
  Magnetic Resonance Imaging Features in Intramedullary Tumors: A Pictorial Review
  Biomedicines

境外已获批用于本病的药物 2L2

欧盟 1 项、美国 1 项。同一药物在两地各批一次的，会分别列出。

• Welireg欧盟2025-02-12
  belzutifan
  官方记录
• Welireg美国2021-08-13
  belzutifan
  官方记录

数据来自欧洲药品管理局（EMA）的药品与孤儿药资格公开导出表，以及美国 FDA 孤儿药资格数据库。两边口径不同：欧盟一侧取的是当前状态仍为「已授权」的药品；美国一侧记录的是「曾获批准」这一事实，FDA 的公开表不追踪药物此后是否退市（例如 Relyvrio 于 2024 年撤市，表中仍记为已获批）。请以官方记录页为准。

在中国开展的临床试验 8L2

按病名在 ClinicalTrials.gov 检索、并校验研究中心含中国大陆而来。登记状态不等于现在真的能入组——务必按 NCT 号到原站核实，并与主治医生商量。

登记为可入组 3

• 招募中NCT04924075
  Belzutifan/MK-6482 for the Treatment of Advanced Pheochromocytoma/Paraganglioma (PPGL), Pancreatic Neuroendocrine Tumor (pNET), Von Hippel-Lindau (VHL) Disease-Associated Tumors, Advanced Gastrointestinal Stromal Tumor (wt GIST), or Solid Tumors With HIF-2α Related Genetic Alterations (MK-6482-015)
  II 期 · 干预性 · 2021/08/12Merck Sharp & Dohme LLC
  中国研究中心 4 个：Beijing、Chengdu、Guangzhou、Shanghai
• 招募中NCT06553339
  A Study of HS-10516 in Patients With VHL Syndrome Associated Tumors
  I 期 · 干预性 · 2024/07/19Jiangsu Hansoh Pharmaceutical Co., Ltd.
  中国研究中心 1 个：Beijing
• 招募中NCT07557225
  18F-T2 PET/CT Imaging for CAIX Positive Solid Tumors
  不适用 · 干预性 · 2026/04/27Peking University First Hospital
  中国研究中心 1 个：Beijing

中国境外的在招试验 19L2

CT.gov 报告命中 19 项，此处取回并展示最近的 15 项。

• 尚未开始招募NCT07705529
  Pediatric Von Hippel-Lindau Disease: Natural History, Predictive Factors, and Long-Term Functional Outcomes of Central Nervous System Hemangioblastomas
  观察性 · 2026/07/15Assistance Publique - Hôpitaux de Paris
  法国
• 尚未开始招募NCT07554508
  Belzutifan VHL RCC HK Prospective Registry
  观察性 · 2026/05Chinese University of Hong Kong
  中国香港
• 招募中NCT07405164
  Extension Study for Participants in Studies That Include Belzutifan (MK-6482-043/LITESPARK-043)
  III 期 · 干预性 · 2026/03/23Merck Sharp & Dohme LLC
  澳大利亚、比利时、巴西、智利、捷克、丹麦、芬兰、法国 等 21 国
• 招募中NCT07171905
  CAT-VHL Exploring the Role of Carbonic Anhydrase IX as Diagnostic and Theranostic Target in Von-Hippel Lindau Disease
  II 期 · 干预性 · 2026/02/25IRCCS Ospedale San Raffaele
  意大利
• 招募中NCT06573723
  Institutional Registry of Rare Diseases
  观察性 · 2024/07/01Hospital Italiano de Buenos Aires
  阿根廷
• 招募中NCT07167329
  Real-World Effectiveness and Pharmacogenetics of Belzutifan in VHL Syndrome: The BELIEVE-VHL Trial
  II 期 · 干预性 · 2024/01/01José Claudio Casali da Rocha
  巴西
• 招募中NCT05955014
  Data Collection Protocol for Patients With Von Hippel Lindau Disease
  观察性 · 2023/08/24M.D. Anderson Cancer Center
  美国
• 招募中NCT06194669
  Mechanisms of Somatic Mutation and Tumor Initiation in Pre-malignant Kidney Tubule Cells
  观察性 · 2023/06/30IRCCS San Raffaele
  意大利
• 招募中NCT05424016
  Propranolol and Von Hippel-Lindau Disease
  不适用 · 干预性 · 2023/01/16Assistance Publique - Hôpitaux de Paris
  法国
• 招募中NCT06523582
  Genetic Bases of Neuroendocrine Neoplasms in Mexican Patients
  观察性 · 2022/08/03Universidad Nacional Autonoma de Mexico
  墨西哥
• 招募中NCT04074135
  Natural History and Management of Von Hippel-Lindau (VHL) Associated Pancreatic Neuroendocrine Tumors
  II 期 · 干预性 · 2020/06/02National Cancer Institute (NCI)
  美国
• 招募中NCT03050268
  Familial Investigations of Childhood Cancer Predisposition
  观察性 · 2017/04/06St. Jude Children's Research Hospital
  美国
• 招募中NCT01496625
  National Eye Institute Biorepository for Retinal Diseases
  观察性 · 2012/06/18National Eye Institute (NEI)
  美国
• 招募中NCT03749980
  MyVHL: Patient Natural History Study
  观察性 · 2012/01Joshua Mann, MPH
  美国
• 招募中NCT02420067
  Screening for Endolymphatic Sac Tumours (ELSTs) in Von Hippel-Lindau (vHL) Patients
  观察性 · 2011/02Marie Luise Bisgaard, MD
  丹麦

外部标识与链接