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
