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J Pediatr Genet 2016; 05(02): 116-123
DOI: 10.1055/s-0036-1579757
Review Article
Georg Thieme Verlag KG Stuttgart · New York

Von Hippel–Lindau Disease

Jennifer J. Findeis-Hosey
1   Department of Pathology and Laboratory Medicine, University of Rochester School of Medicine and Dentistry, Rochester, New York, United States
,
Kelly Q. McMahon
2   Department of Neurology, University of Rochester School of Medicine and Dentistry, Rochester, New York, United States
3   Department of Medicine, University of Rochester School of Medicine and Dentistry, Rochester, New York, United States
,
Sarah K. Findeis
4   The Pennsylvania State University School of Medicine and Dentistry, Hershey, Pennsylvania, United States
› Author Affiliations
Further Information

Publication History

15 July 2015

10 August 2015

Publication Date:
04 April 2016 (online)

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Abstract

Von Hippel–Lindau disease is an autosomal dominant syndrome which occurs secondary to germline mutations in the VHL tumor suppressor gene, located on chromosome 3. Clinically von Hippel–Lindau disease is characterized by an increased risk of developing simple visceral cysts, most commonly in the pancreas and kidneys, in addition to an increased risk of developing neoplasms, often with clear cell features, in a multitude of organ systems. The most common neoplasms are cerebellar and retinal hemangioblastomas, adrenal pheochromocytomas, clear cell renal cell carcinomas, pancreatic neuroendocrine tumors, pancreatic serous cystadenomas, and endolymphatic sac tumors. These lesions most commonly present during adulthood; however, screening and surveillance for the development of these lesions should begin in the pediatric years for patients with von Hippel–Lindau disease. In this review article, the genetics and most common neoplasms of von Hippel–Lindau disease are reviewed, with an eye towards implications for the pediatric patient.

Keywords

von Hippel–Lindau - pathology - pediatric
 

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