title: von Hippel-Lindau Disease: Review of Genetics and Imaging.
abstract: von Hippel-Lindau (VHL) disease is an autosomal-dominant, hereditary, multisystem neoplasia syndrome with increased susceptibility to several benign and malignant tumors. VHL occurs in about 1 in 36,000 live births and is associated with germline mutation of the VHL tumor suppressor gene on the short arm of chromosome 3. VHL disease exhibits diverse genotype and phenotype correlations, exhibits variable intrafamilial and interfamilial expressivity, and can manifest with benign and malignant tumors of the central nervous system, kidneys, adrenals, pancreas, and reproductive organs. Imaging and management of this entity are therefore multidisciplinary. An overview of VHL disease is presented.
authors.affiliation: Department of Radiology, NYU Langone Medical Center, 660 First Avenue, 3rd Floor, New York, NY 10016, USA. Electronic address: Alampady.Shanbhogue@nyumc.org.
authors.forename: Krishna Prasad
authors.initials: KP
authors.lastname: Shanbhogue
authors.affiliation: Department of Radiology, NYU Langone Medical Center, 660 First Avenue, 3rd Floor, New York, NY 10016, USA.
authors.forename: Michael
authors.initials: M
authors.lastname: Hoch
authors.affiliation: Department of Radiology, NYU Langone Medical Center, 660 First Avenue, 3rd Floor, New York, NY 10016, USA.
authors.forename: Girish
authors.initials: G
authors.lastname: Fatterpaker
authors.affiliation: Department of Radiology, NYU Langone Medical Center, 660 First Avenue, 3rd Floor, New York, NY 10016, USA.
authors.forename: Hersh
authors.initials: H
authors.lastname: Chandarana
mesh_terms: D002292:Carcinoma, Renal Cell / Q000000981:diagnostic imaging* / Q000453:epidemiology / Q000235:genetics; D016543:Central Nervous System Neoplasms / Q000000981:diagnostic imaging* / Q000453:epidemiology / Q000235:genetics; D003937:Diagnosis, Differential; D019317:Evidence-Based Medicine; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000235:genetics; D006801:Humans; D007680:Kidney Neoplasms / Q000000981:diagnostic imaging* / Q000453:epidemiology / Q000235:genetics; D008279:Magnetic Resonance Imaging / Q000379:methods; D010190:Pancreatic Neoplasms / Q000000981:diagnostic imaging* / Q000453:epidemiology / Q000235:genetics; D015995:Prevalence; D014057:Tomography, X-Ray Computed / Q000379:methods; D006623:von Hippel-Lindau Disease / Q000000981:diagnostic imaging* / Q000453:epidemiology / Q000235:genetics*
keywords: Clear cell renal cell carcinoma; Hemangioblastoma; Pheochromocytoma; Serous cystadenoma; von Hippel-Lindau disease