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 550L2

2024/10 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。

• 2026-10
  Evaluating potential sources of bias in linear growth rate analysis of renal tumors: case study in Von-Hippel Lindau disease
  American journal of epidemiology · DOI · Europe PMC
• 2026-10
  Support for Disclosure of Hereditary Tumor Risk to Children and Adolescents: A Scoping Review
  Japan journal of nursing science : JJNS · DOI · Europe PMC
• 2026-09
  One Tracer, Whole Syndrome: CAIX-Targeted PET Unmasks the Multisystem Tumor Landscape of Von Hippel-Lindau Disease
  Clinical nuclear medicine · DOI · Europe PMC
• 2026-09综述开放获取
  From Somatic Driver to Molecular Therapy in Retinal, Choroidal and Periocular Vascular Disease: Mosaicism, Targetable Pathways and Ocular Toxicity
  International journal of molecular sciences · DOI · Europe PMC
• 2026-09综述开放获取
  Infiltrative and inflammatory systemic disorders involving the pituitary gland
  Pituitary · DOI · Europe PMC
• 2026-09开放获取
  Oral belzutifan treatment in von hippel-lindau-associated retinal hemangioblastoma: a promising approach
  International journal of retina and vitreous · DOI · Europe PMC
• 2026-09
  Advancing clinical trials for rare renal cell carcinoma subtypes: Consensus statements from the International Kidney Cancer Symposium North America 2025 think tank
  Urologic oncology · DOI · Europe PMC
• 2026-09
  Spontaneous resolution of a post-laser macular epiretinal membrane in pediatric retinal hemangioblastoma secondary to von Hippel-Lindau disease
  Journal francais d'ophtalmologie · DOI · Europe PMC
• 2026-09开放获取
  Altitudinal Visual Field Defect as the Presenting Sign of a Brain Tumor: A Case Report
  Clinical case reports · DOI · Europe PMC
• 2026-09
  Gamma Knife Radiosurgery for Endolymphatic Sac Tumors: A Single-Institution Experience
  Neurology India · DOI · Europe PMC
• 2026-09开放获取
  Clinical outcomes of HIF-2α inhibition in Von Hippel-Lindau disease: a multicenter real-world study
  The oncologist · DOI · Europe PMC
• 2026-08开放获取
  Prognostic Value of the Modified Glasgow Prognostic Score in Patients with Metastatic Renal Cell Carcinoma Receiving Nivolumab as Second-Line Therapy: A Multicentre Retrospective Cohort Study
  Medicina (Kaunas, Lithuania) · DOI · Europe PMC
• 2026-08开放获取
  From Guidelines to Practice: Pilot Implementation and Analytical Boundaries of a Focused ADPKD-Spectrum Gene Panel
  Diagnostics (Basel, Switzerland) · DOI · Europe PMC
• 2026-08病例报告开放获取
  Metastatic Carotid Body Paraganglioma Following Three Decades of Indolent Growth: A Case Report
  Cureus · DOI · Europe PMC
• 2026-08
  Distinct mutational landscapes for germline and somatic cancer variants in forty tumor suppressor genes
  American journal of human genetics · DOI · Europe PMC
• 2026-08综述
  Von Hippel-Lindau disease: Ocular manifestations, surveillance, systemic associations, and emerging molecular therapies
  Best practice & research. Clinical endocrinology & metabolism · DOI · Europe PMC
• 2026-08病例报告开放获取
  Giant Pancreatic Lipoma of the Uncinate Process: A Case Report
  Cureus · DOI · Europe PMC
• 2026-08综述
  Rare genetic endocrine tumor syndromes: VHL, NF1, TSC, and Carney complex
  Best practice & research. Clinical endocrinology & metabolism · DOI · Europe PMC
• 2026-08综述开放获取
  Recent advances in etiology and treatment of von Hippel-Lindau Disease (VHLD)
  Cancer metastasis reviews · DOI · Europe PMC
• 2026-08病例报告开放获取
  Familial erythrocytosis associated with an <i>EGLN1</i> (PHD2) variant of uncertain significance with emerging evidence of pathogenicity
  BMJ case reports · DOI · Europe PMC

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）的药品与罕见病用药资格公开导出表，以及美国 FDA 的罕见病用药资格数据库（Orphan Drug Product Designation Database）。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、加拿大、智利、捷克、丹麦、芬兰 等 22 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