{"title":"Von Hippel-Lindau Disease : A Comprehensive Review of Diagnosis, Genetics, Clinical Challenges, and Surveillance.","authors":"Na Young Jung, Jun Bum Park","doi":"10.3340/jkns.2025.0018","DOIUrl":null,"url":null,"abstract":"<p><p>Von Hippel-Lindau (VHL) disease is a genetic condition predisposing individuals to the development of benign and malignant tumors across various organs. This review explores the intricate genetic underpinnings of VHL disease, its clinical manifestations, and the associated malignancy risks. The latest diagnostic criteria, surveillance guidelines, and advancements in therapeutic strategies, including the Food and Drug Administration-approved hypoxia-inducible factor-2α inhibitor, Belzutifan, are focused on. Through a multidisciplinary approach, tailored surveillance programs aim to improve patient outcomes while balancing intervention risks. Emerging technologies such as whole-body magnetic resonance imaging and liquid biopsies hold promises for enhancing non-invasive surveillance. This review underscores the significance of ongoing research and interdisciplinary care in managing this complex syndrome.</p>","PeriodicalId":16283,"journal":{"name":"Journal of Korean Neurosurgical Society","volume":" ","pages":""},"PeriodicalIF":1.4000,"publicationDate":"2025-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Korean Neurosurgical Society","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.3340/jkns.2025.0018","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
Von Hippel-Lindau (VHL) disease is a genetic condition predisposing individuals to the development of benign and malignant tumors across various organs. This review explores the intricate genetic underpinnings of VHL disease, its clinical manifestations, and the associated malignancy risks. The latest diagnostic criteria, surveillance guidelines, and advancements in therapeutic strategies, including the Food and Drug Administration-approved hypoxia-inducible factor-2α inhibitor, Belzutifan, are focused on. Through a multidisciplinary approach, tailored surveillance programs aim to improve patient outcomes while balancing intervention risks. Emerging technologies such as whole-body magnetic resonance imaging and liquid biopsies hold promises for enhancing non-invasive surveillance. This review underscores the significance of ongoing research and interdisciplinary care in managing this complex syndrome.
期刊介绍：
The Journal of Korean Neurosurgical Society (J Korean Neurosurg Soc) is the official journal of the Korean Neurosurgical Society, and published bimonthly (1st day of January, March, May, July, September, and November). It launched in October 31, 1972 with Volume 1 and Number 1. J Korean Neurosurg Soc aims to allow neurosurgeons from around the world to enrich their knowledge of patient management, education, and clinical or experimental research, and hence their professionalism. This journal publishes Laboratory Investigations, Clinical Articles, Review Articles, Case Reports, Technical Notes, and Letters to the Editor. Our field of interest involves clinical neurosurgery (cerebrovascular disease, neuro-oncology, skull base neurosurgery, spine, pediatric neurosurgery, functional neurosurgery, epilepsy, neuro-trauma, and peripheral nerve disease) and laboratory work in neuroscience.
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