Atypical Teratoid / Rhabdoid Tumor

Atypical teratoid / rhabdoid tumor (AT/RT) is a very rare, fast-growing tumor of the central nervous system. They are commonly found in the brain and spinal cord; any other part of the central nervous system can also be involved. It usually occurs in children aged three years and younger, although it can occur in older children and adults.

This may be linked to a change in a tumor suppressor gene called SMARCB1. This gene helps in the production of a protein that helps in controlling cell growth. Changes in the DNA of the gene may lead to uncontrolled cell growth i.e., cancer. Suppression of the gene may be inherited from parents and genetic counselling may be recommended.

Signs and symptoms depend on the following:

• Age of the child
• Location of the tumor

As atypical teratoid / rhabdoid tumour is fast growing, signs and symptoms may develop quickly and get worse over a period of days or weeks. Signs and symptoms may be caused by AT/RT or by other conditions.

The common symptoms are:

• Morning headache or headache that goes away after vomiting
• Nausea and vomiting
• Unusual sleepiness or change in activity level
• Loss of balance, lack of coordination or trouble walking
• Increase in head size (in infants)

The following tests and procedures may be used to check AT/RT:

• Neurological examination
• MRI(Magnetic Resonance Imaging)
• Lumbar Puncture
• Gene testing: Sample of blood or tissue is tested for the SMARCB1 gene

Combinations of treatments are used for patients with atypical teratoid/rhabdoid tumor.

Because atypical teratoid/rhabdoid tumour (AT/RT) is fast-growing, a combination of treatments is usually given. After surgery to remove the tumor, treatment for AT/RT may include a combination of the following:

• Chemotherapy
• Radiation therapy
• High-dose chemotherapy with stem cell transplant

The prognosis is considered to be very poor, although some therapies can produce long term survival (60 to 72 months). Two-year survival is less than 20%, average survival postoperatively is 11 months and doctors often recommend palliative care, especially with younger children because of the poor outcomes. 

Patients with metastasis (disseminated tumor), larger tumors, tumors that could not be fully removed or tumor recurrence and who were younger than 36 months have shorter survival times.

The treatment of cancer in long-term survivors, who are usually children, causes a series of negative effects on their physical well being, fertility, cognition and learning.