Mary E Aronow1, Henry E Wiley2, Alain Gaudric3, Valerie Krivosic3, Michael B Gorin4, Carol L Shields5, Jerry A Shields5, Eric W Jonasch6, Arun D Singh7, Emily Y Chew2. 1. Retina Service, Massachusetts Eye and Ear, Harvard Medical School, Boston, Massachusetts. 2. National Eye Institute, National Institutes of Health, Bethesda, Maryland. 3. Department of Ophthalmology, Hôpital Lariboisière, AP-HP, Université Paris 7, Sorbonne Paris Cité, Paris, France. 4. Jules Stein Eye Institute, David Geffen School of Medicine, University of California, Los Angeles, California. 5. Ocular Oncology Service, Wills Eye Hospital, Thomas Jefferson University, Philadelphia, Pennsylvania. 6. Department of Genitourinary Medical Oncology, University of Texas Maryland Anderson Cancer Center, Houston, Texas. 7. Cole Eye Institute, Cleveland Clinic, Cleveland, Ohio.
Abstract
PURPOSE: To provide an update summarizing the biologic pathways governing von Hippel-Lindau (VHL) disease pathogenesis and to provide an overview of systemic manifestations as well as screening recommendations. METHODS: A PubMed search of the English language literature was reviewed using the following search terms: von Hippel-Lindau, von Hippel-Lindau disease, and VHL. Of 6,696 publications, the most current and pertinent information related to the pathogenesis and systemic aspects of VHL disease were included in this review. RESULTS: von Hippel-Lindau disease is one of the most frequently occurring multisystem familial cancer syndromes. The disease results from germline mutation in the VHL tumor suppressor gene on the short arm of chromosome 3. Mutation in the VHL gene affects multiple cellular processes including transcriptional regulation, extracellular matrix formation, apoptosis, and, in particular, the cellular adaptive response to hypoxia. As a result, there is widespread development of vascular tumors affecting the retina, brain, and spine, as well as a spectrum of benign and malignant tumors and/or cysts in visceral organs. CONCLUSION: The ophthalmologist plays a key role in VHL disease diagnosis, as retinal hemangioblastoma is frequently the first disease manifestation. Screening guidelines for individuals with known VHL disease, and those at risk of VHL disease, help to ensure early detection of potentially vision-threatening and life-threatening disease.
PURPOSE: To provide an update summarizing the biologic pathways governing von Hippel-Lindau (VHL) disease pathogenesis and to provide an overview of systemic manifestations as well as screening recommendations. METHODS: A PubMed search of the English language literature was reviewed using the following search terms: von Hippel-Lindau, von Hippel-Lindau disease, and VHL. Of 6,696 publications, the most current and pertinent information related to the pathogenesis and systemic aspects of VHL disease were included in this review. RESULTS:von Hippel-Lindau disease is one of the most frequently occurring multisystem familial cancer syndromes. The disease results from germline mutation in the VHL tumor suppressor gene on the short arm of chromosome 3. Mutation in the VHL gene affects multiple cellular processes including transcriptional regulation, extracellular matrix formation, apoptosis, and, in particular, the cellular adaptive response to hypoxia. As a result, there is widespread development of vascular tumors affecting the retina, brain, and spine, as well as a spectrum of benign and malignant tumors and/or cysts in visceral organs. CONCLUSION: The ophthalmologist plays a key role in VHL disease diagnosis, as retinal hemangioblastoma is frequently the first disease manifestation. Screening guidelines for individuals with known VHL disease, and those at risk of VHL disease, help to ensure early detection of potentially vision-threatening and life-threatening disease.
Authors: Randy Christopher Bowen; H Culver Boldt; Robert F Mullins; Matthew G Field; Louisa M Affatigato; Jeremy M Hoffmann; James C Folk; Karen M Gehrs; Ian C Han; Elliott H Sohn; Stephen R Russell; Edwin M Stone; Budd A Tucker; Elaine M Binkley Journal: Ophthalmol Retina Date: 2021-08-18
Authors: Jamie E Clarke; Stephanie Magoon; Irman Forghani; Francesco Alessandrino; Gina D'Amato; Emily Jonczak; Ty K Subhawong Journal: Eur J Radiol Open Date: 2022-04-25