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CION Cancer Clinics
Positive for ALK or PHOX2B: what happens next | CION Cancer Clinics
What happens after a positive ALK or PHOX2B result depends on who carries the fault. A child already being treated usually keeps the same treatment plan. A well child who carries it starts regular scans and urine tests through early childhood. An adult carrier mainly needs the result for family planning. This page walks through each path and what the first few months look like. 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 happens after a positive ALK or PHOX2B result?
- What should the family expect after the result?
- What does a checking plan usually involve?
- The words you will meet, in plain language
- What does a positive result change, and what does it not?
- What parents often fear after a positive result
- What this page cannot tell you
- Common questions after a positive result
The short answer
What happens after a positive ALK or PHOX2B result?
What happens next depends on who carries the fault. A child already being treated keeps the same treatment plan, and the family is offered testing. A well child who carries it starts a regular checking plan. An adult carrier mainly needs the result for family planning.
If your child is already being treated
The result rarely changes the first treatment. Your child's plan was built on the tumour itself, and that stays the same. An inherited ALK fault does mean the tumour carries the same change, which your oncologist may take into account if the cancer returns or does not respond.
If a well child carries the fault
Nothing is wrong with the child today. The aim is to find any tumour early, while it is small and easier to treat. That means regular scans and urine tests through the years when the risk is highest.
If you are the parent who carries it
Adults who carry an ALK fault rarely develop neuroblastoma, because the risk sits in early childhood. Your result matters most for your children, your brothers and sisters, and any future pregnancy.
If you are expecting another baby
Tell your obstetrician and your counsellor early. The baby can be tested soon after birth with a small blood sample, and checks can begin straight away if the result is positive. Some couples also choose testing during the pregnancy itself. There is no need to decide everything in the first week. Most families take time to absorb the result before planning the next step.
A positive result is a reason to watch closely. It is not a diagnosis.The first few months
What should the family expect after the result?
A positive result starts several things at once. None of them needs to happen on the same day.
A results appointment
The counsellor explains the exact change found, how the laboratory has classified it, and what it means for each person. Bring a relative who can take notes.
A referral for carrier children
Children who carry the fault are referred to a paediatric oncologist, who sets the checking plan and explains what each scan looks for.
Extra checks for PHOX2B
PHOX2B also shapes breathing control and the bowel's nerves. A carrier child may be offered a sleep study or a bowel assessment as well.
Mention straight away
- Pauses in breathing during sleep
- Severe constipation from birth
- Blue lips or unusual sleepiness
Telling the wider family
Aunts, uncles and cousins with young children may want testing. The counsellor can give you a family letter to share, in Telugu or English, so you do not have to explain the science yourself. Relatives decide for themselves whether to act on it.
Not sure whether this applies to you?
Ask an oncologistFor a carrier child
What does a checking plan usually involve?
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Checks start early
For a baby who carries the fault, checks usually begin soon after birth or soon after the result. The first visit sets a baseline to compare later scans against.
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A tummy ultrasound
An ultrasound of the abdomen looks at the adrenal glands and the nerves beside the spine. It uses no radiation and needs no sedation.
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A urine test
Neuroblastoma cells often release chemicals that pass into the urine. A simple urine sample can pick these up, sometimes before a scan shows anything.
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Checks every few months at first
In the early years, checks are frequent. Some plans also include a chest X-ray. Your child's oncologist sets the exact timing.
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Less often as the child grows
The risk falls sharply after early childhood. Checks become less frequent and usually stop once the high-risk years have passed.
On your report
The words you will meet, in plain language
- Surveillance
- Regular checks in someone who is well, to find a tumour early.
- Urine catecholamines
- Chemicals made by nerve cells. High levels in the urine can be an early sign of neuroblastoma.
- Abdominal ultrasound
- A scan of the tummy using sound waves. Painless and free of radiation.
- ALK inhibitor
- A medicine that blocks the ALK switch in tumour cells. Studied in children whose tumours carry an ALK change.
- CCHS
- Congenital central hypoventilation syndrome. A condition, linked to PHOX2B, where the body does not breathe deeply enough during sleep.
- Hirschsprung disease
- A bowel condition present at birth, where nerves are missing from part of the gut.
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Side by side
What does a positive result change, and what does it not?
It changes
It does not change
Carrier children get regular scans and urine tests
The first treatment of a child already diagnosed
Brothers and sisters are offered testing
The fact that many carriers stay well
Future pregnancies can be planned with full information
Your right to have children the usual way
ALK-blocking medicines may be considered in some situations
The need for ordinary childhood care and vaccines
Commonly believed
What parents often fear after a positive result
"A positive result means my well child will get cancer."
It raises the chance. It does not settle it. Many carriers never develop a tumour, and those who do are usually found early because they are being watched.
"Regular scans will harm my child."
Ultrasound uses sound waves, not radiation, and a urine test is just a sample. These checks are among the gentlest in medicine.
"Checks will go on for the rest of their life."
For most carriers, the tumour risk is concentrated in early childhood. Checks usually ease off and stop once those years have passed.
"There is a medicine to switch the gene off."
An inherited fault cannot be corrected or reversed. ALK-blocking medicines treat tumours. They are not given to well children to prevent one.
Being straight with you
What this page cannot tell you
It cannot tell you what your family's particular result means. The exact change matters, especially for PHOX2B, where some changes mainly affect breathing and others carry a higher tumour risk. What your specific variant means is a question for the counsellor who ordered the test.
It cannot set your child's checks
The timing and length of a checking plan are decided by your child's oncologist. Plans vary between centres, and the evidence behind them comes from small numbers of families, so a doctor who knows your child is the right person to set it.
Who this does not apply to
If your child's result was negative, or showed only a variant of uncertain significance, this page does not apply. An uncertain result should not start a checking plan on its own. Tumour-only ALK results are a different question, covered under targeted therapy.
Questions we are asked
Common questions after a positive result
Does my child's treatment change because of this result?
Usually not at first. Treatment is planned on the tumour, its stage and how it behaves. An inherited ALK change means the tumour carries it too, which your oncologist may weigh if the cancer comes back or does not respond.
How often will my carrier child be scanned?
Every few months in the early years, then less often as the child grows. The exact timing is set by the paediatric oncologist and can differ between centres. Ask for the plan in writing so you can keep track of it.
Can the scans be done closer to home?
Often yes. A tummy ultrasound and a urine test can be done at a good district centre, with the results sent to your child's oncologist. Ask your team which centres they trust, so that the reports are reliable and easy to compare.
What signs should we watch for between checks?
A swelling in the tummy, a lump, unexplained fever, bone pain, bruising around the eyes, or a child who stops feeding or growing well. None of these means cancer on its own, but mention them to your doctor rather than waiting for the next scan.
Should adult carriers have scans too?
Usually not. Neuroblastoma in adults is very rare, even in carriers. Adults are mainly offered counselling about their children and future pregnancies. Your counsellor will say if anything in your family history changes that.
Is treatment covered by government schemes?
Childhood cancer treatment is covered under Aarogyasri in Telangana and under Ayushman Bharat for eligible families. Genetic testing and routine checks may not be covered. Ask the hospital's insurance desk before tests are booked.
Can we avoid passing this on in a future pregnancy?
Couples who know the exact fault can discuss testing during pregnancy or testing embryos during IVF. Both are personal choices. Having a child without either, and simply starting checks early, is an equally valid path.
Who do we speak to next?
Your genetic counsellor for questions about the result and the family, and your child's paediatric oncologist for the checking plan. Call the CION helpline if you are not sure who to approach, and someone will point you in the right direction.
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 — Congenital central hypoventilation syndrome
- 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
Testing the family for ALK and PHOX2BWho else should be tested, and in what orderThe ALK and PHOX2B genes: what they doWhy a fault in these genes leads to tumours in young childrenFamilial neuroblastoma: how rare is it?How uncommon the inherited form really isPaediatric genetic services in HyderabadWhere children's genetic care is available locally
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