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Why every phaeochromocytoma warrants a genetic test | CION Cancer Clinics
Everyone diagnosed with a phaeochromocytoma or paraganglioma should be offered a genetic test, even with no family history. These tumours are inherited more often than almost any other tumour, and the answer changes the operation, the follow-up and the family's screening. This page explains why guidelines treat testing as routine, which genes are involved, and what happens with the result. At CION Cancer Clinics, our oncologists plan screening and care for families with an inherited cancer syndrome, explained in plain words.
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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
- Why is genetic testing offered to everyone with a phaeochromocytoma?
- Which genes can be behind a phaeochromocytoma?
- How the testing actually happens
- The words you will meet, in plain language
- What a result changes, and what it does not
- Four things patients tell us, and what is actually true
- What this page cannot tell you
- Common questions about testing after a phaeochromocytoma
The short answer
Why is genetic testing offered to everyone with a phaeochromocytoma?
Because these tumours are inherited more often than almost any other kind of tumour. Estimates vary between studies, but a substantial share of people with a phaeochromocytoma or paraganglioma, often put at around a third, carry a gene fault they were born with. International endocrine guidelines therefore advise that testing is offered to every patient, not only to those with a family history.
A clear family history does not rule it out
Several things can hide an inherited fault. With one of the genes, SDHD, tumours usually appear only when the fault comes from the father, so it can pass silently through mothers for generations. Many carriers never develop a tumour. Small families may not have enough relatives for a pattern to show. And sometimes the fault is new in the patient.
Why the answer matters so much
A result changes the operation, the follow-up and the family's future. It can point to tumours in other organs that nobody was looking for. It can signal a higher chance of spread, which changes how closely you are watched. And it lets relatives find out, with one blood test, whether they need screening at all.
Testing is offered as routine here. It is not a sign that your doctor suspects anything unusual about you.The genes involved
Which genes can be behind a phaeochromocytoma?
More than a dozen genes are known. A panel test looks at all of them together, so you do not need to know in advance which one to look for.
The SDH genes
SDHA, SDHB, SDHC, SDHD and SDHAF2. Together they are the most common inherited cause, especially of paragangliomas outside the adrenal gland.
Worth knowing
- SDHB carries a higher chance of the tumour spreading
- SDHD often causes tumours in the neck
- Some SDH faults also raise kidney and stomach tumour risk
VHL
Von Hippel-Lindau can cause phaeochromocytomas alongside kidney tumours and growths in the eye, brain, spine and pancreas. A result here opens a wider screening programme.
RET
A fault in RET causes multiple endocrine neoplasia type two, which includes medullary thyroid cancer. Finding it can lead to thyroid surgery for relatives before cancer develops.
NF1 and the rest
Neurofibromatosis type one is usually recognised from skin patches and soft lumps before any test. Rarer genes include MAX, TMEM127 and FH, each with its own pattern.
Your counsellor will explain only the gene that turns up, not all of them.Not sure whether this applies to you?
Ask an oncologistFrom referral to result
How the testing actually happens
A conversation before the test
A genetic counsellor draws your family tree, explains what the test can and cannot find, and talks through what a result would mean for your relatives. Counselling in Telugu can be arranged.
One blood sample
An ordinary blood sample is sent for a panel that checks all the relevant genes at once. It can be taken before or after surgery, and no fasting is needed.
A clue from the tumour itself
After the operation, the pathologist can stain the removed tumour for the SDHB protein. If the stain is missing, an SDH fault is more likely, and it helps the laboratory judge an unclear result.
The result, explained in person
You go through the report with the counsellor. If a fault is found, you receive a letter naming the exact variant so relatives can be tested for it.
On your report
The words you will meet, in plain language
- Phaeochromocytoma
- A tumour inside the adrenal gland, which sits on top of the kidney. It often releases adrenaline-like hormones.
- Paraganglioma
- The same kind of tumour growing outside the adrenal gland, in the neck, chest, abdomen or pelvis.
- Germline
- Present in every cell from birth, and so able to pass down a family. This is what the blood test looks for.
- Gene panel
- One test that reads many genes at once, instead of one gene at a time.
- Penetrance
- How often a fault actually leads to a tumour across everyone who carries it. For these genes it is well short of everyone.
- Variant of uncertain significance
- A change the laboratory cannot yet call harmful or harmless. It should not change your care or your family's.
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Side by side
What a result changes, and what it does not
A fault is found
No fault is found
Follow-up is shaped around the gene, for life
Follow-up is based on the tumour that was removed
Other organs linked to the gene are checked
No extra organs are screened on genetic grounds
Relatives can be tested for the exact fault
Relatives usually need no testing
Children may need checks from a young age
Children are usually not screened
Commonly believed
Four things patients tell us, and what is actually true
"Nobody else in my family has had this, so it cannot be inherited."
Many people found to carry a fault have no known family history. Carriers often stay well, and one gene can hide behind several generations of mothers who never develop a tumour.
"I was diagnosed at an older age, so testing is only for young people."
Faults are found more often in younger patients, but they are found in older ones too. That is why guidelines advise offering the test whatever your age.
"The tumour has been removed, so the gene no longer matters."
Surgery deals with the tumour you had. A fault can cause new tumours in other places later, and it is still there for your children and siblings to inherit. The result guides both.
"If I carry it, my children will definitely get tumours."
Each child has a one in two chance of inheriting the fault, and many who inherit it never develop a tumour. Those who do are usually found early, because they were being checked.
Being straight with you
What this page cannot tell you
It cannot tell you whether you carry a fault. Only the test can, and only after a counsellor has explained what it might show. It also cannot tell you how likely your own tumour is to come back. That depends on the tumour, where it was and the gene, if one is found.
It cannot interpret a report you are holding
The same gene name can carry very different meanings depending on the exact variant and how it is classified. What your specific variant means is a question for the counsellor who ordered the test. Searching for the variant online usually adds worry without adding clarity.
Who this does not apply to
This page is about people who have been diagnosed with a phaeochromocytoma or paraganglioma. Most people with high blood pressure, headaches or a small lump found by chance on a scan do not have one, and do not need this test. Your doctor will usually check hormone levels first to find out whether it is even the right question.
If you had one of these tumours removed years ago and were never offered testing, it is not too late to ask.Questions we are asked
Common questions about testing after a phaeochromocytoma
Should the test be done before or after surgery?
Either can work. When the result is available before the operation, it can help the surgeon plan, for example whether to try to keep part of the adrenal gland. When it is not, testing after surgery is still worthwhile and the removed tumour can add useful clues.
Is a blood test enough, or do they need the tumour?
A blood sample is enough for the inherited test. Tumour tissue answers a different question, and staining it for the SDHB protein can support the result. Testing the tumour for faults that exist only in the cancer is covered on our targeted therapy pages.
I had my tumour removed years ago. Is it too late?
No. The fault, if there is one, is in your blood for life. Testing now can still change your own follow-up and tell your relatives whether they need screening. Bring your old surgery and pathology reports to the counselling appointment if you still have them.
My test found no fault. Does that mean my family is safe?
It usually means relatives do not need testing, which is good news. Testing cannot find every possible cause, so your counsellor will look again at your family history before closing the question. You will still have follow-up for the tumour you had.
Which relatives should be tested if a fault is found?
Parents, brothers, sisters and children first, because each has a one in two chance of sharing the fault. From there testing can move outwards through the family. Your counsellor will give you a letter naming the exact variant to share with them.
Does it matter which parent the fault came from?
For most of these genes it does not. For SDHD, and one or two rarer genes, it matters a great deal, because tumours usually appear only when the fault is inherited from the father. Your counsellor will explain what this means for each child in your family.
What if the result is a variant of uncertain significance?
It means the laboratory found a change and cannot yet say whether it matters. It should not change your care, and relatives are usually not tested for it. Classifications are reviewed as evidence grows, so ask how you will be told if yours changes.
How do I arrange testing in Hyderabad?
Ask the surgeon or endocrinologist who treated you for a referral to genetic counselling, or call the CION helpline. Someone will explain the process, what it is likely to cost and which reports to bring, and can arrange counselling in Telugu if you prefer.
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
- GeneReviews (NCBI) — Hereditary Paraganglioma-Pheochromocytoma Syndromes
- National Cancer Institute — Pheochromocytoma and Paraganglioma Treatment (PDQ) - Patient Version
- MedlinePlus Genetics — Hereditary paraganglioma-pheochromocytoma
- National Cancer Institute — Genetic Testing for Inherited Cancer Susceptibility Syndromes
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.
Keep reading
Related pages
Hereditary paraganglioma and phaeochromocytoma explainedThe condition itself, before the testing questionWhy SDHB carries the highest risk of spreadIf your result names SDHBMaternal imprinting in SDHDWhy this gene can hide behind generations of mothersLiving with a lifelong screening programmeWhat follows if a fault is found
Talk to us
Were you treated for a phaeochromocytoma but never tested?
Tell us when you were treated and what reports you still have. We will explain whether testing is worth doing now and arrange counselling if it is. One helpline serves every CION centre.