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The VHL gene: the oxygen switch that keeps growths in check | CION Cancer Clinics
The VHL gene makes a protein that helps cells sense oxygen. When it works, cells only call for new blood vessels when they genuinely need them. When both copies fail in a cell, that cell behaves as if it were starved of oxygen, and growths rich in blood vessels can form in the eyes, brain, spine, kidneys, adrenal glands and pancreas. This page explains how that happens and what it means for a family. At CION Cancer Clinics, our oncologists explain what a gene result means for you and your family, and plan the checks that follow.
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Medically reviewed by Dr. Naresh GunduConsultant Medical Oncologist · MBBS, DNB (Internal Medicine), DM (Medical Oncology, AIIMS) · last reviewed September 2026, next review due September 2027
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On this page
- What does the VHL gene normally do?
- Which parts of the body does a VHL fault affect?
- How does a VHL fault lead to a growth?
- The words you will meet, in plain language
- An inherited VHL fault versus a VHL fault in a tumour
- Four things families say about the VHL gene, and what is true
- What this page cannot tell you
- Common questions about the VHL gene
The short answer
What does the VHL gene normally do?
The VHL gene makes a protein that helps each cell sense how much oxygen it has. When oxygen is normal, the VHL protein clears away a signal that would otherwise tell the cell to grow new blood vessels. When the VHL protein is missing, that signal stays switched on, and a cell can grow when it should not.
An oxygen switch inside every cell
Cells need a steady supply of oxygen. When oxygen runs short, they send out chemical messages asking the body to build more blood vessels nearby. The VHL protein is the off switch for those messages. It tags the messenger proteins for destruction as long as oxygen is plentiful, so new vessels are only built where they are genuinely needed.
What goes wrong when the switch fails
Without a working VHL protein, a cell behaves as if it were starved of oxygen even when it is not. It keeps calling for new blood vessels and keeps receiving growth signals. That is why VHL growths are so rich in blood vessels, and why they form in organs with a busy blood supply.
VHL is called a tumour suppressor gene. Its job is to hold growth back.Where it shows up
Which parts of the body does a VHL fault affect?
One faulty gene can lead to growths in several organs. Most carriers develop at least one of these over a lifetime, though rarely all of them.
Eyes, brain and spine
Benign knots of blood vessels called haemangioblastomas form in the retina, the back of the brain and the spinal cord. They are the most common VHL growths and are often the first to appear.
Kidneys
Cysts and clear cell kidney cancer, often in both kidneys and at more than one spot. Found small, these tumours are usually watched and then treated without removing the whole kidney.
Adrenal glands and nearby nerves
Phaeochromocytomas and paragangliomas, which release stress hormones. They are usually benign but can cause dangerous surges in blood pressure.
Pancreas, ears and reproductive organs
Pancreatic cysts are common and mostly harmless. Some carriers develop pancreatic neuroendocrine tumours. Less often, a growth forms in the inner ear or near the testes or womb.
Signs worth reporting
- Hearing loss or ringing in one ear
- Dizziness or poor balance
Not sure whether this applies to you?
Ask an oncologistFrom fault to growth
How does a VHL fault lead to a growth?
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You are born with one working copy
Everyone has two copies of the VHL gene. A carrier inherits one faulty copy, present in every cell. The other copy still works, so the cells behave normally.
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The second copy is damaged in one cell
Over the years, copying errors or ordinary wear can knock out the working copy in a single cell of the kidney, eye or brain. That cell now has no VHL protein.
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The cell senses a false shortage of oxygen
Without the off switch, oxygen-shortage messengers build up. The cell reads this as an emergency even though its oxygen supply is fine.
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It calls for blood vessels and grows
The cell releases growth signals that draw in new blood vessels and encourage it to divide. Over months or years, a small growth can form.
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Which is why risk is not certainty
Whether and when the second copy fails is partly chance. That is why carriers in the same family can have very different courses.
On your report
The words you will meet, in plain language
- Tumour suppressor gene
- A gene whose normal job is to slow cell growth. Losing both copies in a cell removes that brake.
- HIF
- Short for hypoxia-inducible factor. It is the oxygen-shortage messenger that the VHL protein normally clears away.
- VEGF
- A growth signal that tells the body to build new blood vessels. It is overproduced when VHL is not working.
- Autosomal dominant
- One faulty copy is enough to raise risk. Each child of a carrier has a one in two chance of inheriting it.
- De novo variant
- A fault that appears for the first time in one person, with neither parent carrying it.
- Mosaicism
- When a fault is present in only some of a person's cells. It can make a blood test look weaker or even negative.
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Two different findings
An inherited VHL fault versus a VHL fault in a tumour
Inherited VHL fault
VHL fault found only in a tumour
Present in every cell from birth
Present only in the tumour cells
Found on a blood test
Found on a test of tumour tissue
Growths can appear in several organs
Affects that one kidney tumour
Can be passed to children
Cannot be passed on
Relatives are offered testing
Relatives need no VHL testing for it
Commonly believed
Four things families say about the VHL gene, and what is true
"VHL is a kidney cancer gene."
Kidney cancer is only one part of it. The eyes, brain, spine, adrenal glands and pancreas can all be affected, which is why checks cover all of them.
"Every VHL growth is a cancer."
Most are benign. Haemangioblastomas and pancreatic cysts do not spread. They can still cause problems by pressing on nearby tissue, which is why they are watched.
"If my kidney tumour has a VHL change, my family is at risk."
Not necessarily. Many kidney cancers carry a VHL change that arose only inside the tumour. Only a fault found on a blood test is inherited.
"Neither parent is ill, so it cannot be inherited."
A parent can carry the fault with mild or unnoticed growths. Some people are also the first in their family to have it. Testing the parents settles which it is.
Being straight with you
What this page cannot tell you
It cannot tell you whether you carry a VHL fault, or what a variant on your report means. The same gene can carry many different changes, and they do not all behave alike. What your specific variant means is a question for the counsellor who ordered the test.
Why the biology matters for treatment
Understanding the oxygen switch has led to medicines. Some kidney cancer drugs block the blood-vessel signal, and a newer tablet blocks the oxygen-shortage messenger itself. Whether any of these suits you is a decision for your oncologist. Testing of the tumour itself for treatment choices is covered under targeted therapy, not on this page.
Who this does not apply to
Most people with a single kidney cyst, or one kidney cancer found in later life, do not carry an inherited VHL fault and do not need this test. A counsellor considers testing when there are growths in more than one organ, a young age at diagnosis, or a family pattern.
Studies of VHL in Indian families are still small. Most of what is known comes from families abroad.Questions we are asked
Common questions about the VHL gene
What does VHL stand for?
It stands for von Hippel-Lindau, after the two doctors who first described the eye and brain growths. The same name is used for the gene and for the condition caused when one copy is faulty from birth.
How common is VHL?
It is rare. Most doctors will see only a few families in their careers. Indian figures are not well recorded, and some families are likely missed because growths in different organs are treated separately and never linked.
Can VHL appear in someone with no family history?
Yes. A minority of people are the first in their family to carry the fault. Their children can still inherit it. Testing the parents helps show whether the fault is new or was passed down.
Which test finds a VHL fault?
A blood test that reads the gene letter by letter and also checks for large missing pieces. Both parts matter, because a deletion can be missed by reading alone. Your counsellor will make sure the right test is ordered.
Can a VHL fault be corrected?
No. The inherited fault stays for life and cannot be reversed. What can be done is to find growths early and treat them in ways that protect sight, kidney function and the nervous system.
Does lifestyle affect VHL growths?
Evidence is thin. Not smoking is sensible, as smoking raises kidney cancer risk in everyone. Keeping blood pressure and kidney health in check helps too. No diet or supplement has been shown to prevent VHL growths.
Is the tumour test the same as the VHL blood test?
No. A tumour test looks for changes inside the cancer to guide treatment. The blood test looks for an inherited fault present from birth. They answer different questions, and one does not replace the other.
Who should I speak to if I think VHL runs in my family?
Start with your oncologist or a genetic counsellor. Write down who had eye, brain, spine, kidney, adrenal or pancreas growths, and at roughly what age. Call the CION helpline if you are not sure where to begin.
Your Specialists
Meet CION's oncologists. Bring your family history or genetic report to them.
Our medical oncologists see people with a strong family history of cancer, arrange genetic counselling and testing where it fits, and plan the checks that follow.
Medical Oncologist
Dr. C. Raghavendra Reddy
MBBS(Gold Medal), DNB(General Medicine), DM(Medical Oncology)(Gold Medal)
Medical Oncologist
Dr. Bharati Devi Gorantla
MBBS, MD(General Medicine), DM(Medical Oncology)(Adyar,Chennai), ECMO, MRCP SCE(UK)
Medical Oncologist
Dr. Owais Mohammed
MBBS, MD (General Medicine), DrNB (Medical Oncology), ECMO, MRCP SCE (Medical Oncology) (UK)
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Sources
- MedlinePlus Genetics — VHL gene
- GeneReviews (NCBI Bookshelf) — Von Hippel-Lindau Syndrome
- MedlinePlus Genetics — Von Hippel-Lindau syndrome
- National Cancer Institute — Genetics of Kidney (Renal Cell) Cancer (PDQ) - Health Professional Version
This page is general information, not a prescription. Do not change or stop any treatment based on what you read here. If anything is worrying you, contact your own treating team — or call our helpline and we will help you reach the right specialist.
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