Atypical Teratoid Rhabdoid Tumour (AT/RT) is an extremely rare tumour usually diagnosed in children 3 years & younger. Although usually a brain tumour, it can occur anywhere in the central nervous system (CNS) including the spinal cord. It is a disease in which malignant (cancer) cells form in the tissues of the brain. About 60% will be in the posterior cranial fossa (particularly the cerebellum). The cerebellum is the part of the brain that controls movement, balance, and posture. The brain stem controls breathing, heart rate, and the nerves and muscles used in seeing, hearing, walking, talking, and eating. AT/RT may also be found in other parts of the central nervous system.
Around 30 new AT/RT cases are diagnosed each year. It represents around 3% of paediatric cancers of the CNS. It is the most common childhood solid tumour & affects all the basic bodily functions. CNS tumours counts for a massive 26% of children diagnosed between the ages of 0-14 here in the UK and is the second leading cause of childhood death. With more than 400 new cases each year and claiming the lives of more than 100 children each year in the UK.
We don’t know what causes most paediatric brain tumours.
However, about 10% of all AT/RT cases have what’s called a germline mutation, or a hereditary genetic abnormality that increases the patient’s risk of developing AT/RT. It has been linked to somatic and germline mutations of SMARCB1, a tumor suppressor gene. This genetic mutation (INI1) may be inherited, in which case tumors may also occur in the kidneys and other parts of the body. This defect may also occur spontaneously.
Because AT/RT grows rapidly, patients typically have a fairly short history of progressive symptoms, measured in days to weeks. Signs and symptoms are dependent on tumor location and they may also develop ataxia or regression of motor skills.
Symptoms of these tumours are:
* Headaches (especially upon waking in the
* Nausea and vomiting
* Fatigue and lethargy
* Trouble with balance and coordination
* Increased head size in infants (hydrocephalus)
* Persistent cramps in limbs
* Bladder control loss
* Weight loss
* Numbness in parts of the body
* Excruciating pain from the neck down
* Crying/screaming maybe at certain times of the day (this is when the pain is at its worst)
* Uncontrolled eye movements as the tumour grows in size
Due to the rarity of this tumour and the lack of randomized controlled trials it has been challenging to define optimal therapy and advance treatment. Approximately 50% of AT/RTs will transiently respond, but Chemotherapy by itself is rarely curative. No therapy has been proven to deliver long-term survival, nor is there a set of standard protocols for each country.
The very 1st case of AT/RT ever diagnosed here in the UK was back in 1996. Rhiley Kim Bennett's Consultant placed her under a German protocol called EURAB. It took 2 weeks to find & work out which would be the best course of action taking into consideration Rhiley's age and the extent of her tumour. The UK is lacking standard therapies & treatments for this deadly cancer.
The prognosis has been very poor for children under the age of 3 years old and as little of 15% or less chance of survival.
This aggressive tumour still remains a significant challenge in paediatric neuro-oncology, and new approaches are desperately needed. There is a need to push for advances in therapy that may lead to increased survival rate for patients with this devastating tumour that simply shows no remorse.