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.jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117 J+Pediatr+Genet
2016 ; 5
(2
): 116-23
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Von Hippel-Lindau Disease
#MMPMID27617152
Findeis-Hosey JJ
; McMahon KQ
; Findeis SK
J Pediatr Genet
2016[Jun]; 5
(2
): 116-23
PMID27617152
show ga
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.