Atypical Teratoid/ Rhabdoid Tumor (AT/RT)

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Diagnosing and Treating AT/RT

A child with any neurological symptoms will first be given a physical exam that includes neurologic function tests (reflexes, muscle strength, eye and mouth movement, coordination and alertness). If a tumor is suspected, the child will have imaging tests so that doctors can look into the brain for any abnormality. Tests may include:

Magnetic resonance imaging (MRI) scans produce detailed images of the brain and spine and allow doctors to detect the presence of a tumor.

Genetic testing is a way of looking for the genetic defect often associated with AT/RT. This helps doctors confirm not only the presence of a tumor, but what kind of tumor it is.

A computerized tomography (CT) scan may be used to confirm the presence of the tumor and check for tumors in other parts of the body, especially in the abdomen and chest.

An ultrasound is a non-invasive way to check the kidneys and other organs for any signs of tumors.

A lumbar puncture (spinal tap) is a test of a small sample of cerebrospinal fluid (CSF) to look for tumor cells.

A surgical biopsy may be performed to help confirm the diagnosis. In this procedure, a neurosurgeon extracts a small sample of the tumor to test it in a pathology laboratory.

The "gold standard," or the definitive test for AT/RT is the combination of the genetic testing and the biopsy. The tissue from the biopsy is tested for the INI-1 mutation that defines AT/RT.

There is no cure for AT/RT, but there are treatments available. Some children may have surgery to remove as much of the tumor as possible (see Surgery for AT/RT), but it spreads so fast that it’s not possible to completely remove it. Other treatments include:

Radiation therapy may help control the growth of the tumor and may be used instead of or in addition to surgery. Precisely targeted radiation can kill cancer cells left behind after surgery, or it can be an alternative to surgery to very young children. (Those under age 3 generally are not good candidates for radiation.)  Radiation can have long-lasting side effects when used on children, and those effects may not appear until months or years after the treatment, but unfortunately it’s one of the few options available for AT/RT.

Chemotherapy may be used before surgery to help shrink a tumor, or as followup after surgery to kill off any cancer cells left behind. It is given systemically (meaning to the whole body, not just to the site of the tumor) and may be a pill, an injection, or an IV drip.

Surgery may be performed to extract a sample of the tumor for a biopsy, to remove as much of the tumor as possible, or to place or reposition a shunt. (See Surgery for AT/RT.)

Other treatments may include stem cell transplants to help restore healthy bone marrow, steroid treatment to reduce swelling, or oxygen therapy to help restore function. Researchers are now investigating other treatments, including immunotherapy and gene therapy. 

The prognosis for AT/RT remains poor, but treatment can prolong life and preserve function while laboratory researchers continue to search for better alternatives. (Find out more about the Children’s Brain Tumor Project.)

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Reviewed by: Jeffrey Greenfield, MD/PhD
Last reviewed/last updated: August 2018