Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2016 Jun;5(2):116-23.
doi: 10.1055/s-0036-1579757. Epub 2016 Apr 4.

Von Hippel-Lindau Disease

Affiliations
Free PMC article
Review

Von Hippel-Lindau Disease

Jennifer J Findeis-Hosey et al. J Pediatr Genet. .
Free PMC article

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: pathology; pediatric; von Hippel–Lindau.

Figures

Fig. 1
Fig. 1
Hemangioblastoma of the cerebellum, demonstrating a rich proliferation of thin-walled capillaries and large stromal cells with foamy cytoplasm (hematoxylin and eosin, 400×).
Fig. 2
Fig. 2
Clear cell renal cell carcinoma with cytoplasmically clear epithelial cells and anastomosing vascular network (hematoxylin and eosin, 200×).
Fig. 3
Fig. 3
Pheochromocytoma with large polygonal epithelial cells adjacent to normal adrenal cortical tissue (hematoxylin and eosin, 200×).
Fig. 4
Fig. 4
Pancreatic neuroendocrine tumor with nest of neoplastic neuroendocrine cells (hematoxylin and eosin, 200×).
Fig. 5
Fig. 5
Pancreatic microcystic serous cystadenoma with variably sized cystic spaces lined by uniform, cytoplasmically clear, cuboidal epithelial cells (hematoxylin and eosin, 400×).
Fig. 6
Fig. 6
Endolymphatic sac tumor with papillary architecture and uniform cuboidal epithelial cells (hematoxylin and eosin, 200×).

Similar articles

See all similar articles

Cited by 3 articles

LinkOut - more resources

Feedback