AT/RT is a very aggressive brain tumour seen in infants and young children. The tumour is characterized through a mutation of the tumour suppresor gene INI1. Genetic predisposition (germline mutation) can be found in up to 35% of patients. Therefore genetic testing for patients and parents is warranted.
About half of AT/RT’s are found in the cerebellum or brainstem. However, they may appear anywhere in the brain or spinal cord. An AT/RT can appear as a large, bulky mass.
Common symptoms include, but are not necessarily limited to:
- Change in activity level
- Increased head size (in infants)
- Lack of coordination
- Loss of balance
- Morning headache or headache that goes away after vomitting
- Nausea and vomitting
- Trouble walking and regression of milestones
- Unusual sleepiness
Treatment/Standard of Care
Currently, there are no standard-of-care treatment protocols for AT/RT. Treatment generally involves several approaches including surgery to remove the tumour, followed by chemotherapy and/or high-dose chemotherapy, and stem cell transplant. Frequently focal radiation is also considered as part of the treatment plan.