VHL
Associated Syndrome
Von Hippel-Lindau syndrome (VHL)
Core Cancer Risk(s)
Renal Cancer, Pancreatic Neuroendocrine Tumors, and Paragangliomas
Inheritance
Autosomal Dominant
Prevalence
1 in 36,000
CANCER
GENETIC CANCER RISK
Endocrine
High Risk
Other
High Risk
Renal
High Risk
CANCER TYPE
AGE RANGE
CANCER RISK
RISK FOR GENERAL POPULATION
Renal
To age 60
17%-70%
0.5%
Pancreatic Neuroendocrine Tumors (PNET)
To age 75
5%-17% for tumors, only some of which will be malignant
<0.1%
Paraganglioma/Pheochromocytoma
To age 75
10%-25%
<0.1%
Other - Non-malignant features of VHL
All ages
VHL is associated with a high risk for a wide range of non-malignant clinical features, some of which require medical intervention in early childhood.
N/A
CANCER TYPE
PROCEDURE
AGE TO BEGIN
FREQUENCY
Renal
Abdominal imaging with MRI (preferred) or CT, with and without contrast
10 to 15 years, or individualized to a younger age based on the earliest renal cancer diagnosis in the family
Every 1 to 2 years
Pancreatic Neuroendocrine Tumors (PNET)
Abdominal imaging with MRI (preferred) or CT, with and without contrast
10 to 15 years
Every 1 to 2 years
Paraganglioma/Pheochromocytoma
Blood pressure monitoring
2 years
Annually or at any medical visit
Biochemical monitoring of blood and urine
2 to 5 years
Annually or prior to any surgical procedure
Abdominal imaging with MRI (preferred) or CT, with and without contrast
15 years
Every 2 to 3 years
Other - Non-malignant features of VHL
Multiple screenings are recommended, including MRI of the brain, spine and abdomen, vision and hearing exams, neurological assessment, blood and urine tests
Some screenings are recommended from birth
Varies, but most are annually
For Patients With A Cancer Diagnosis
For patients with a gene mutation and a diagnosis of a VHL cancer/tumor, targeted therapies may be available as a treatment option for certain tumor types (e.g., inhibitors of HIF-2α or tyrosine kinase).
N/A
N/A