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Rhabdoid tumour predisposition syndrome, explained for families | CION Cancer Clinics
Rhabdoid tumour predisposition syndrome is a rare inherited condition that gives a child a high chance of rhabdoid tumours, aggressive cancers of the brain, kidney and soft tissues. It is caused by a fault in SMARCB1 or SMARCA4, and it is usually found after a young child has been diagnosed. This page explains the two types, when doctors suspect it, how it is confirmed and what it means for the 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 is rhabdoid tumour predisposition syndrome?
- When do doctors think of this syndrome?
- How is the syndrome confirmed?
- What do the terms used for this syndrome mean?
- How does an inherited rhabdoid tumour differ from one that is not?
- What can this page not tell you?
- What do families often believe about this syndrome?
- Common questions about rhabdoid tumour predisposition
The short answer
What is rhabdoid tumour predisposition syndrome?
It is a rare inherited condition that gives a child a high chance of developing rhabdoid tumours, which are aggressive cancers of the brain, kidney and soft tissues. It is caused by a fault in one of two genes, SMARCB1 or SMARCA4, present from birth in every cell. It is usually found after a baby or young child has already been diagnosed with a rhabdoid tumour.
Two types, two genes
Type 1 is caused by a SMARCB1 fault. It is the more common type and carries a high risk of rhabdoid tumours in the first years of life. Type 2 is caused by a SMARCA4 fault. It is much rarer, more often passed down from a healthy parent, and linked mainly to a rare ovarian cancer in young women.
Why the family usually had no warning
In most type 1 families, the fault appeared for the first time in the child. It arose by chance when the egg or sperm formed, so there was no family history to notice. The child with cancer is very often the first person in the family to be affected.
Both genes work as brakes on cell growth. A tumour forms when the second, working copy is lost in one cell.Reasons to suspect it
When do doctors think of this syndrome?
International guidance is simple on one point. Every child diagnosed with a rhabdoid tumour should be offered genetic evaluation. Some situations make the syndrome even more likely.
A very young baby
The younger the child at diagnosis, the more likely the fault is inherited. A tumour found before birth or in the first months of life is a strong signal.
More than one tumour
Rhabdoid tumours in two places at once, such as the brain and a kidney, point firmly towards an inherited fault. So does a second tumour appearing after the first was treated.
A family pattern
A brother, sister or cousin who had a rhabdoid tumour, or a young woman in the family with a rare ovarian cancer, changes the picture completely.
Worth mentioning to the doctor
- Any child in the family lost to a brain or kidney tumour
- A young aunt or cousin with ovarian cancer
- Relatives with nerve tumours called schwannomas
A specific tumour report
When a tumour shows loss of SMARCB1, also called INI1, or of SMARCA4, the tumour is a rhabdoid type. A separate blood test then shows whether the fault is also present from birth.
Not sure whether this applies to you?
Ask an oncologistFrom suspicion to answer
How is the syndrome confirmed?
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The tumour is tested
The pathologist stains the tumour for the SMARCB1 or SMARCA4 protein. Loss of the protein confirms a rhabdoid tumour, but says nothing yet about inheritance.
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The family meets a genetic counsellor
The counsellor explains what the blood test can and cannot show, and draws out the family tree on both sides.
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The child has a blood test
The test looks for the fault in ordinary cells. It must also check for missing pieces of the gene, which some tests miss.
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If a fault is found, the parents are tested
This shows whether it came from a parent or arose new in the child, which changes the advice for brothers and sisters.
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A surveillance and family plan is agreed
The team sets out which scans the child needs, who else in the family should be tested, and what options exist for future pregnancies.
On your report
What do the terms used for this syndrome mean?
- RTPS1 and RTPS2
- Short forms for rhabdoid tumour predisposition syndrome type 1, caused by SMARCB1, and type 2, caused by SMARCA4.
- SWI/SNF complex
- A group of proteins that loosens and tightens how DNA is packed, so the right genes can be read. Both genes make parts of it.
- De novo
- A fault that appeared for the first time in the child, not inherited from either parent. It can still be passed to that child's own children.
- Gonadal mosaicism
- A parent carrying the fault only in some egg or sperm cells. A blood test on that parent looks normal, yet another child can inherit it.
- Surveillance
- Regular scans and examinations in a child who is well, to find a tumour as early as possible.
- Variant of uncertain significance
- A change the laboratory cannot yet call harmful or harmless. It should not be treated as a positive result.
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Side by side
How does an inherited rhabdoid tumour differ from one that is not?
With the syndrome
Without the syndrome
Often diagnosed in the first months of life
Tends to be diagnosed a little later
More than one tumour is possible
Usually a single tumour
Frequent scans continue after treatment
Follow-up focuses on the treated tumour
Brothers and sisters are offered testing
Siblings carry no raised risk from this
Options for future pregnancies are discussed
No specific test for future pregnancies
Being straight with you
What can this page not tell you?
It cannot tell you whether your child has this syndrome. Only a blood test, read by a genetics team alongside the tumour report, can answer that. What your specific variant means is a question for the counsellor who ordered the test.
It cannot promise that surveillance works
Frequent scans in early childhood are recommended by expert groups, but they rest on expert agreement more than on strong trials. Studies so far are small. Surveillance aims to find a tumour earlier, which may make it easier to treat. It is not a promise.
Who this does not apply to
Most childhood cancers are not rhabdoid tumours, and most children with cancer do not carry an inherited fault. If your child's tumour report does not mention SMARCB1, INI1 or SMARCA4, this page is unlikely to apply. A SMARCA4 change in an adult lung tumour is also a separate matter, covered in our targeted therapy pages.
Surveillance in infancy means frequent travel. Families from Telangana districts should ask early which scans can be done closer to home.Commonly believed
What do families often believe about this syndrome?
"No one in our family had cancer, so it cannot be genetic."
In most families with type 1, the fault is new in the child. A blank family history is exactly what doctors expect, and it is not a reason to skip the blood test.
"This is a curse on the family, or punishment for something."
It is a chance change in one gene. It is not caused by anything anyone did, ate or failed to do, and it says nothing about the family's worth. Counsellors hear this fear often and will talk it through.
"Our child's cancer has been treated, so the syndrome is gone."
Treatment removes the tumour. The gene fault stays in every cell. That is why checks for a new tumour continue after treatment ends.
"We should not have more children."
That is a family's own decision. Testing during pregnancy and testing of embryos in IVF are both possible once the family's fault is known. A counsellor can explain each option without pressure.
Questions we are asked
Common questions about rhabdoid tumour predisposition
Should every child with a rhabdoid tumour be tested?
Yes. International guidance recommends offering genetic evaluation to every child diagnosed with a rhabdoid tumour, whatever their age. The result changes surveillance for the child and the advice given to siblings and parents.
How often are scans needed?
In infancy and early childhood, published guidance suggests brain and abdominal imaging every few months, easing off after early childhood. The exact plan depends on the gene, the kind of fault and your child's history. Your team will set it.
Will my baby need sedation for every MRI?
Very young babies can sometimes be scanned while asleep after a feed. Older infants and toddlers often need sedation or anaesthesia to keep still. Ask the team whether ultrasound can replace some scans of the abdomen, as it needs no sedation.
Can the syndrome affect adults?
Adult carriers exist, mostly healthy parents found through family testing. Women with SMARCA4 faults face a risk of a rare ovarian cancer. A few SMARCB1 carriers develop benign nerve tumours in adult life.
What if my child died before testing was done?
Stored tumour tissue from surgery or biopsy can sometimes still be tested, and both parents can be tested directly. This can give surviving and future children an answer. A counsellor can explain what is possible with what has been kept.
Is treatment covered by government schemes?
Childhood cancer treatment may be covered under Aarogyasri or Ayushman Bharat, depending on eligibility and the hospital. Cover for genetic tests and repeated surveillance scans is less consistent. Ask the hospital's scheme desk before treatment starts.
Does consanguinity make this more likely?
Not in the way it does for some other conditions. One faulty copy is enough to cause this syndrome, and most faults arise new in the child. Mention a related marriage to the counsellor anyway, as it matters for other tests.
Where do we start?
Ask your child's oncologist for a genetics referral and bring the tumour report. Write down any childhood cancers or young ovarian cancers on both sides of the family. 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)
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Sources
- National Cancer Institute — Rhabdoid Tumor Predisposition Syndrome Type 1 (PDQ) - Health Professional Version
- GeneReviews (NCBI) — Rhabdoid Tumor Predisposition Syndrome
- MedlinePlus Genetics — Rhabdoid tumor predisposition syndrome
- National Cancer Institute — Childhood Central Nervous System Atypical Teratoid/Rhabdoid Tumor 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
SMARCB1 and SMARCA4 mutation: which cancers and what riskEach linked tumour, and how the risk changes with ageTesting the family for SMARCA4 and SMARCB1Parents, siblings and future pregnanciesSurveillance programmes for predisposed childrenWhat frequent childhood scans involve in practiceParental guilt after an inherited diagnosisFor parents asking whether they caused this
Talk to us
Has your child been diagnosed with a rhabdoid tumour?
Tell us what the tumour report says and whether a genetic test has been offered. We will help you reach a genetics team who can guide the family through it. One helpline serves every CION centre.