Atypical teratoid rhabdoid tumour (ATRT) is an aggressive embryonal tumour that primarily occurs in infants and very young children, most often before three years of age. It is a highly malignant tumour that can spread through the cerebrospinal fluid (CSF) to other parts of the brain and spinal cord. ATRT is characterised by loss of function of the SMARCB1 gene (also known as INI1), which is located on chromosome 22q. The SMARCB1 gene normally helps regulate how cells grow and divide. When this gene stops working, cells can grow uncontrollably and form tumours.
ATRT can occur anywhere in the brain or spinal cord. It most commonly develops in the posterior fossa, particularly near the cerebellum, but it can also arise in the cerebral hemispheres or, less commonly, in the spinal cord.
Atypical Teratoid Rhabdoid Tumour (ATRT) is a rare but highly aggressive tumour of the central nervous system (CNS). It is classified as a World Health Organization (WHO) grade 4 tumour because of its aggressive behaviour and rapid growth .
Although rare, it accounts for a substantial portion of primary CNS tumours diagnosed in infants and very young children. ATRT is the most common malignant CNS tumour for children under 1 year old, accounting for approximately 40% to 50% of all cases; in young children under 3, ATRT accounts for roughly 17% to 20% of all CNS tumours.
Because ATRT is aggressive, treatment typically involves a specialised, multi-disciplinary approach. This may include surgery to remove as much of the tumour as possible, followed by chemotherapy and sometimes radiotherapy. Treatment plans are carefully tailored by specialist teams experienced in managing complex paediatric brain tumours.
Importantly, families facing an ATRT diagnosis are not alone. Specialised medical teams, support services, and resources are available through treating hospitals to help guide families at every stage of care.
ATRT Symptoms
ATRT symptoms can vary depending on the child’s age and where the tumour is located in the brain or spinal cord. Because ATRT can grow quickly, symptoms may develop or worsen over a short period of time and should be assessed by a doctor as soon as possible. Some symptoms depend on the part of the brain or spinal cord affected, because different areas control different brain functions.
ATRT symptoms can include:
- Headaches, which may be worse in the morning and sometimes improve after vomiting
- Nausea and vomiting
- Signs of hydrocephalus (a build-up of fluid in the brain that increases pressure)
- Trouble with balance and coordination
- Difficulty in walking or unsteady movement
- Unusual sleeping patterns
- Unusual tiredness or lthargy
- Seizures
- Back pain or limb weakness if the tumour involves the spinal cord
Many of the symptoms of ATRT are similar to those of other central nervous system conditions. Therefore, a formal medical diagnosis is essential.
How is ATRT Diagnosed?
Timely diagnosis of ATRT is critical because these tumours grow rapidly and require specialist treatment. If symptoms suggest a brain tumour, doctors usually perform imaging tests such as magnetic resonance imaging (MRI) or computed tomography (CT). Doctors usually perform MRI scans of both the brain and the spine to check whether the tumour has spread.
Because ATRT can look similar to other central nervous system tumours like medulloblastoma or ependymoma on imaging, a tissue sample (usually collected during surgery) is needed to confirm the diagnosis.
The tumour sample is then examined using laboratory tests that analyse its molecular and genetic features. A tumour can be confirmed as ATRT by detecting loss of the SMARCB1 gene (also called INI1), which is located on chromosome 22.
In rare cases, changes in another gene called SMARCA4 may also cause the tumour. Because ATRT can spread through the CSF, doctors also check whether tumour cells have spread to other parts of the brain or spinal cord. To assess whether the tumour has spread your healthcare team may also perform a lumbar puncture to collect CSF.
A lumbar puncture involves inserting a needle between the bones of the lower spine to collect a small amount of CSF. Analysis of this fluid allows doctors to check for tumour cells and determine whether the cancer has spread to the spinal cord. Modern diagnostic testing may also include gene sequencing or DNA methylation profiling, which can help doctors classify the tumour more precisely and guide treatment decisions.
ATRT Treatment Options
As ATRT is rare and complex, treatment is usually provided at specialised paediatric cancer centres. Due to its highly aggressive nature , treatment for ATRT usually involves a combination of therapies. These typically include maximal safe surgical resection, followed by chemotherapy and sometimes radiotherapy tailored to the child’s age and clinical status. Radiotherapy is an important treatment for ATRT, but it is often delayed or avoided in children younger than three years because of the risk of long-term effects on brain development.
Many treatment protocols involve intensive multi-agent chemotherapy, and in some cases high-dose chemotherapy with stem cell support, combined with surgery and radiotherapy. Because these treatments can cause significant side effects, doctors carefully assess each child to determine the most appropriate treatment plan.
Prognosis and Outlook
ATRT is an aggressive tumour and outcomes can be more challenging when the disease has spread or when it occurs in very young children. Median overall survival has often been reported between about 6 and 13 months. Long term outcomes remain limited, with around 30% of children surviving five years after diagnosis in larger studies. Survival tends to be better in children older than 3 years, in those without metastatic disease, and in patients able to receive combined treatment with surgery, chemotherapy, and radiotherapy.
While radiation can play a key role in ATRT treatment, it is often delayed or avoided in very young children because of the risk of long-term effects on brain development. Survival rates for ATRT have improved in recent years as treatment approaches have become more intensive and specialised.
Research, Clinical Trials, and Hope for the Future
Researchers around the world are working to better understand atypical teratoid rhabdoid tumour (ATRT) and develop safer, more effective treatments. Because ATRT is rare and complex, much of this progress comes from international collaborations and clinical trials that bring together expertise from multiple research centres. These efforts aim to improve survival while reducing the long-term side effects of current therapies.
Advances in molecular research have significantly improved understanding of how ATRT develops. Most ATRTs arise when a gene called SMARCB1 stops functioning properly. This gene normally helps regulate how DNA is organised and how genes are switched on or off within a cell. When SMARCB1 is lost, the normal control of cell growth is disrupted, allowing tumour cells to grow and divide uncontrollably. By studying the molecular pathways affected by this gene, researchers hope to identify new drug targets that could slow or stop tumour growth.
Because ATRT can spread through the cerebrospinal fluid that surrounds the brain and spinal cord, scientists are also exploring treatments that can more effectively reach tumour cells in these areas. Some studies are investigating therapies delivered directly into the cerebrospinal fluid, known as intrathecal treatments, which may allow medicines to reach tumour cells more directly than standard systemic chemotherapy.
Immunotherapy is another area of active research. These treatments aim to stimulate the body’s immune system so it can recognise and attack cancer cells. Although ATRT typically has fewer genetic mutations than many adult cancers, early laboratory studies suggest that certain immunotherapy strategies may still have potential in rhabdoid tumours.
Researchers are also investigating whether medicines already used for other cancers could be effective against ATRT. Repurposing existing drugs may allow promising therapies to move more quickly into clinical trials because their safety profiles are already better understood.
Together, these research efforts are helping scientists build a clearer picture of ATRT biology and identify new ways to treat this aggressive tumour. While current treatments remain intensive, ongoing clinical trials continue to explore strategies that aim to improve outcomes and reduce the long-term impact of treatment on a developing brain.
Support for families and carers
When dealing with an ATRT diagnosis, parents, carers and siblings often find themselves navigating complex medical decisions.
Support may include help understanding treatment options, coordinating care, managing practical challenges, and finding emotional support for the months ahead. Many families also need guidance in accessing second opinions, clinical trials, or palliative care services — and in knowing when to ask for help.
You do not have to manage this alone. Connecting with experienced support services like the National Advocacy Service can help connect you with information, resources and support tailored to your situation.
Visit our Support Hub for more information.
Disclaimer: [9.1]All Cure Brain Cancer Foundation website content is created and published online for informational purposes only. It is not intended to be a substitute for professional medical advice, diagnosis or treatment. You should seek your own medical advice from your doctor or other qualified health professionals.
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