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
- Cysts in kidneys, pancreas, genital tract etc
- Hemangioblastoma
- Renal cell carcinoma
- Pheochromocytoma
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
- Family history of VHL
- VHL-associated lesions: renal cell carcinoma, adrenal pheochromocytoma, pancreatic neuroendocrine tumor, hemangioblastoma, etc.
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cell carcinoma
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