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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

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CANCER

GENETIC CANCER RISK

Endocrine 

High Risk

Other

High Risk

Renal

High Risk

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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

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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

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