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Childhood Central Nervous System Atypical Teratoid/Rhabdoid Tumor Treatment (PDQ®)

Patient Version
Last Modified: 09/02/2014

General Information About Atypical Teratoid/Rhabdoid Tumor



Central nervous system atypical teratoid/rhabdoid tumor is a disease in which malignant (cancer) cells form in the tissues of the brain.

Central nervous system (CNS) atypical teratoid/rhabdoid tumor (AT/RT) is a very rare, fast-growing tumor of the brain and spinal cord. It usually occurs in children younger than three years of age, although it can occur in older children and adults.

About half of these tumors form in the cerebellum or brain stem. 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 (brain and spinal cord).

Anatomy of the brain, showing the cerebrum, cerebellum, brain stem, and other parts of the brain.Anatomy of the inside of the brain, showing the pineal and pituitary glands, optic nerve, ventricles (with cerebrospinal fluid shown in blue), and other parts of the brain.

This summary describes the treatment of primary brain tumors (tumors that begin in the brain). Treatment for metastatic brain tumors, which are tumors formed by cancer cells that begin in other parts of the body and spread to the brain, is not discussed in this summary. For more information see the PDQ summary on Childhood Brain and Spinal Cord Tumors Treatment Overview about the different types of childhood brain and spinal cord tumors.

Brain tumors can occur in both children and adults; however, treatment for children may be different than treatment for adults. See the PDQ treatment summary on Adult Brain Tumors for more information.

Certain genetic changes may increase the risk of atypical teratoid/rhabdoid tumor.

Anything that increases the risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn’t mean that you will not get cancer. Talk with your child's doctor if you think your child may be at risk.

Atypical teratoid/rhabdoid tumor may be linked to a change in a tumor suppressor gene called SMARCB1. This type of gene makes a protein that helps control cell growth. Changes in the DNA of tumor suppressor genes like SMARCB1 may lead to cancer.

Changes in the SMARCB1 gene may be inherited (passed on from parents to offspring). When the SMARCB1 gene change is inherited, tumors may form in two parts of the body at the same time (for example, in the brain and the kidney). If AT/RT is diagnosed, genetic counseling (a discussion with a trained professional about inherited diseases and a possible need for gene testing) may be recommended.

The signs and symptoms of atypical teratoid/rhabdoid tumor are not the same in every patient.

Signs and symptoms depend on the following:

  • The child's age.
  • Where the tumor has formed.

Because atypical teratoid/rhabdoid tumor is fast growing, signs and symptoms may develop quickly and progress over a period of days or weeks. Signs and symptoms may be caused by AT/RT or by other conditions. Check with your child's doctor if your child has any of the following:

  • 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).

Tests that examine the brain and spinal cord are used to detect (find) atypical teratoid/rhabdoid tumor.

The following tests and procedures may be used:

  • Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patient's health habits and past illnesses and treatments will also be taken.

  • Neurological exam : A series of questions and tests to check the brain, spinal cord, and nerve function. The exam checks a person’s mental status, coordination, and ability to walk normally, and how well the muscles, senses, and reflexes work. This may also be called a neuro exam or a neurologic exam.

  • MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the brain and spinal cord. This procedure is also called nuclear magnetic resonance imaging (NMRI).

  • Lumbar puncture : A procedure used to collect cerebrospinal fluid from the spinal column. This is done by placing a needle into the spinal column. This procedure is also called an LP or spinal tap.

  • INI1 gene testing: A laboratory test in which a sample of blood or tissue is tested for the INI1 gene.

Childhood atypical teratoid/rhabdoid tumor is diagnosed and may be removed in surgery.

If doctors think there might be a brain tumor, a biopsy may be done to remove a sample of tissue. For tumors in the brain, the biopsy is done by removing part of the skull and using a needle to remove a sample of tissue. A pathologist views the tissue under a microscope to look for cancer cells. If cancer cells are found, the doctor may remove as much tumor as safely possible during the same surgery. The pathologist checks the cancer cells to find out the type of brain tumor. It is often difficult to completely remove AT/RT because of where the tumor is in the brain and because it may already have spread at the time of diagnosis.

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Drawing of a craniotomy showing a section of the scalp that has been pulled back to remove a piece of the skull; the dura covering the brain has been opened to expose the brain. The layer of muscle under the scalp is also shown.
Craniotomy: An opening is made in the skull and a piece of the skull is removed to show part of the brain.


The following test may be done on the sample of tissue that is removed:

  • Immunohistochemistry : A test that uses antibodies to check for certain antigens in a sample of tissue. The antibody is usually linked to a radioactive substance or a dye that causes the tissue to light up under a microscope. This type of test may be used to tell the difference between AT/RT and other brain tumors.

Certain factors affect prognosis (chance of recovery) and treatment options.

The prognosis (chance of recovery) and treatment options depend on the following:

  • Whether there are certain inherited gene changes.
  • The age of the child.
  • The amount of tumor remaining after surgery.
  • Whether the cancer has spread to other parts of the central nervous system (brain and spinal cord) or to the kidney.