von Hippel-Lindau syndrome

von Hippel-Lindau syndrome 

Updated: 10/01/2021

© Jun Wang, MD, PhD

General features
  • Inherited disorder characterized by the formation of tumors and fluid-filled cysts in many different parts of the body
  • Two types based on risk for pheochromocytoma
    • Type 1. Low risk for pheochromocytoma only (1A) or low risk for both pheochromocytoma and renal cell carcinoma, (1B) 
    • Type 2. High risk for pheochromocytoma
  • Autosomal dominant inheritance
  • Associated tumors appear at young adult age
  • High risk of renal cell carcinoma, adrenal pheochromocytoma, pancreatic neuroendocrine tumor, retinal/CNS hemangioblastoma
Clinical features
Genetic abnormality
  • VHL: Encodes Von Hippel-Lindau disease tumor suppressor
  • Alteration of both copies of the VHL gene needed for tumor and cyst formation
Diagnosis
  • Genetic testing: Detection of a germline mutation in the VHL gene
  • Patients suspected for VHL referred to specialized centers for evaluation, genetic counseling, and definitive diagnosis
History suggestive of VHL



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