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Familial neuroblastoma: how rare it is and when to ask | CION Cancer Clinics
Familial neuroblastoma is rare. Only about one or two in every hundred children with neuroblastoma have a form that runs in the family, usually through a fault in the ALK or PHOX2B gene. This page explains the clues that make doctors suspect it, how a family is tested, and why most parents can be reassured that their other children carry no special risk. 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
- How rare is inherited neuroblastoma?
- What makes a doctor suspect it runs in the family?
- How does a family learn their neuroblastoma is inherited?
- The words you will meet, in plain language
- How is familial neuroblastoma different from the usual kind?
- What parents often worry about, and what is true
- What this page cannot tell you
- Common questions about familial neuroblastoma
The short answer
How rare is inherited neuroblastoma?
Very rare. Only about one or two in every hundred children with neuroblastoma have a form that runs in the family. For almost every other child, the cancer started by chance in that child alone, and brothers and sisters carry no special risk.
What neuroblastoma is
Neuroblastoma is a cancer of immature nerve cells. It most often starts in the adrenal glands above the kidneys, or along the nerves beside the spine. It is one of the commonest solid cancers of early childhood, and it is usually found before a child starts school.
What makes a case familial
A case is called familial when more than one relative has had neuroblastoma, or when a child is found to carry an inherited gene fault that raises the risk. Most of these families have a fault in a gene called ALK. A smaller group have a fault in PHOX2B. In some families with a clear pattern, no gene fault is found at all.
Why rare still matters
When the inherited form is present, it changes the care of the whole family. Younger brothers and sisters can be checked with simple scans, and parents can plan a future pregnancy with full information.
The clues doctors look for
What makes a doctor suspect it runs in the family?
None of these clues proves anything on its own. Each one is a reason to ask a genetic counsellor to look more closely.
Another relative had it
A brother, sister, parent or cousin who had neuroblastoma, or a related tumour called ganglioneuroblastoma, is the strongest clue. Two cases in one family are rarely chance.
An unusually young diagnosis
Inherited cases tend to be found earlier than usual, often in the first year of life. Young age alone is common, though, so doctors look at it alongside the other clues.
More than one starting point
Two separate tumours, such as one in each adrenal gland, suggest the child started life with a fault in every nerve cell.
Doctors check whether it is
- Two new tumours, not one that has spread
- Present from very early in life
Breathing or bowel problems too
A child who also has trouble with automatic breathing during sleep, or Hirschsprung disease, a bowel problem present at birth, may carry a PHOX2B fault.
Not sure whether this applies to you?
Ask an oncologistHow it is usually found
How does a family learn their neuroblastoma is inherited?
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A child is diagnosed and treated
Treatment comes first and does not wait for any gene result. The treating team plans care on the tumour itself.
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Someone notices a clue
The oncologist or the family points out an earlier case, a very young diagnosis or a second tumour. That is the trigger for a referral.
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The child's blood is tested
A counsellor meets the parents first and explains what a result could mean. A blood sample from the affected child is then checked for inherited faults in ALK, PHOX2B and a few related genes.
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Parents are tested for the exact fault
If a fault is found, each parent can be tested for that one fault. This shows which side of the family it came from, or that it arose new in the child.
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Brothers and sisters are offered checks
Siblings can be tested early in life because the risk sits in early childhood. Those who carry the fault are watched with regular scans and urine tests.
On your report
The words you will meet, in plain language
- Neuroblastoma
- A cancer of immature nerve cells, almost always in young children.
- Familial
- Seen in more than one relative, or linked to a fault passed down the family.
- ALK
- A gene that acts like a switch telling young nerve cells to grow. The commonest cause of inherited neuroblastoma.
- PHOX2B
- A gene that guides how the automatic nervous system forms before birth. A rarer cause, often with breathing or bowel problems.
- Germline
- Present in every cell from birth, so it can be passed on. A fault found only inside the tumour is called somatic.
- De novo
- A fault that appears for the first time in the child, with neither parent carrying it.
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Side by side
How is familial neuroblastoma different from the usual kind?
Familial neuroblastoma
The usual, sporadic kind
A fault present in every cell from birth
Changes that arose only in the tumour
Often diagnosed in the first year of life
Usually diagnosed a little later in childhood
Sometimes two separate tumours
Almost always one starting point
Siblings may be tested and watched
Siblings need no special checks
Commonly believed
What parents often worry about, and what is true
"Our child got neuroblastoma, so our next baby will too."
Almost always not. In the usual kind, the risk to a brother or sister is barely higher than for any other child.
"We must have done something in pregnancy to cause this."
Nothing a mother ate, did or took has been shown to cause neuroblastoma. Even the inherited form is simply a spelling difference in a gene that nobody chose.
"If a parent carries the fault, they would have had cancer too."
Not necessarily. Many adults who carry an ALK fault never had a tumour. The risk sits mostly in early childhood, and plenty of carriers pass through it untouched.
"An ALK result from the tumour means the whole family has it."
Usually it does not. Most ALK changes found in a tumour arose there alone. Only a blood test can show whether the fault is inherited.
Being straight with you
What this page cannot tell you
It cannot tell you whether your child's neuroblastoma is inherited. That needs a counsellor who has drawn your family tree, looked at the tumour report and, where it makes sense, arranged a blood test.
It cannot read a report for you
The same gene name can mean very different things depending on the exact change and how the laboratory has classified it. What your specific variant means is a question for the counsellor who ordered the test.
Who this does not apply to
Most families with a child who has neuroblastoma do not need genetic testing. If your child has one tumour, no relative has had neuroblastoma and there are no breathing or bowel problems, testing is unlikely to change anything. The evidence on the rarer genes is also thin, because so few families have been studied.
Tumour testing for treatment decisions is a separate question, covered under targeted therapy.Questions we are asked
Common questions about familial neuroblastoma
Should my other children be tested for neuroblastoma?
Only if an inherited fault has been found, or the family history strongly suggests one. For most families the answer is no, because the cancer arose by chance in one child. A counsellor can look at your family and tell you which situation you are in.
Can neuroblastoma skip a generation?
The illness can appear to skip, but the gene does not. A parent can carry an ALK fault, never develop a tumour, and pass it to a child who does. That is why parents are tested even when they have always been well.
How is an inherited fault tested for?
With a blood sample, usually from the child who had neuroblastoma. The laboratory reads the genes linked to the inherited form. Once a fault is known, relatives are tested for that one fault only, which is simpler and quicker.
If my child carries a fault, will they definitely get neuroblastoma?
No. A fault raises the chance, but many carriers never develop a tumour. Children who carry one are usually watched with regular tummy scans and urine tests through early childhood, so that anything that does appear is found early.
Does the inherited form behave differently?
It is often found younger and sometimes as more than one tumour. Treatment is still planned on the tumour itself. The inherited result mainly changes what happens for the rest of the family, not the first treatment your child receives.
Can we have another child without passing it on?
Couples who know the exact family fault can talk to a counsellor about testing during pregnancy, or about testing embryos during IVF. These are personal choices, and having children without either is an equally valid path.
Is ALK in the tumour the same as ALK in the family?
No. An ALK change in the tumour may guide treatment choices, but most such changes are not inherited. A separate blood test is needed to answer the family question. Your oncologist and counsellor will tell you whether that test is worth doing.
Where do we start if we are worried?
Write down every relative who had a childhood cancer, with their age at diagnosis. Take that to your child's oncologist and ask whether a genetic referral makes sense. Counselling can be done in Telugu, and the CION helpline can point you to the right clinic.
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)
Medical Oncologist
Medical Oncologist
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Sources
- GeneReviews (NCBI) — ALK-Related Neuroblastic Tumor Susceptibility
- MedlinePlus Genetics — Neuroblastoma
- MedlinePlus Genetics — PHOX2B gene
- National Cancer Institute — Neuroblastoma Treatment (PDQ) – Patient 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.
Keep reading
Related pages
The ALK and PHOX2B genes: what they doHow these two genes shape developing nerve cellsTesting the family for ALK and PHOX2BWho is tested, in what order, and at what ageALK and PHOX2B positive: what happens nextThe first months after a positive family resultWhich syndromes do require childhood testingWhy this is one of the genes tested in young children
Talk to us
Worried your child's neuroblastoma might run in the family?
Tell us who in the family had a childhood cancer and at what age. We will help you decide whether a genetic referral is worth making. One helpline serves every CION centre.