Key Points for This Section

Central nervous system atypical teratoid/rhabdoid tumor is a disease in which malignant (cancer) cells form in the tissues of the brain. Certain genetic changes may increase the risk of atypical teratoid/rhabdoid tumor. The symptoms of atypical teratoid/rhabdoid tumor are not the same in every patient. Tests that examine the brain and spinal cord are used to detect (find) atypical teratoid/rhabdoid tumor. Childhood atypical teratoid/rhabdoid tumor is diagnosed and may be removed in surgery. Certain factors affect prognosis (chance of recovery) and treatment options.

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).

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 ¹ 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 ² 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. Parents who think their child may be at risk for cancer should discuss this with their child's doctor.

Atypical teratoid/rhabdoid tumor may be linked to a change in a tumor suppressor gene called INI1. This type of gene makes a protein that helps control cell growth. Changes in the DNA of tumor suppressor genes like INI1 may lead to cancer.

Changes in the INI1 gene may be inherited (passed on from parents to offspring). When the INI1 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 symptoms of atypical teratoid/rhabdoid tumor are not the same in every patient.

Because atypical teratoid/rhabdoid tumor is fast growing, symptoms may develop quickly and progress over a period of days or weeks. Symptoms vary and depend on the age of the patient and where the tumor has formed.

These symptoms may be caused by AT/RT or by other conditions. A doctor should be consulted if any of the following problems occur:

• 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.
• CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, such as the abdomen or pelvis, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography.
• 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.
• Ultrasound exam: A procedure in which high-energy sound waves (ultrasound) are bounced off internal tissues or organs and make echoes. The echoes form a picture of body tissues called a sonogram. A renal ultrasound is used to check for AT/RT that may develop in the kidneys at the same time as in the brain.
• 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.

In order to tell the difference between AT/RT and other brain tumors, an immunohistochemistry study may be done on the sample of tissue that is removed. An immunohistochemistry study is a laboratory test in which a substance such as an antibody, dye, or radioisotope is added to a sample of cancer tissue to test for certain antigens.

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

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

• 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.

Glossary Terms

The area of the body that contains the pancreas, stomach, intestines, liver, gallbladder, and other organs.

A type of protein made by plasma cells (a type of white blood cell) in response to an antigen (foreign substance). Each antibody can bind to only one specific antigen. The purpose of this binding is to help destroy the antigen. Antibodies can work in several ways, depending on the nature of the antigen. Some antibodies destroy antigens directly. Others make it easier for white blood cells to destroy the antigen.

A substance that causes the immune system to make a specific immune response.

An aggressive cancer of the central nervous system, kidney, or liver that occurs in very young children. Also called AT/RT and ATT/RHT.

The removal of cells or tissues for examination by a pathologist. The pathologist may study the tissue under a microscope or perform other tests on the cells or tissue. There are many different types of biopsy procedures. The most common types include: (1) incisional biopsy, in which only a sample of tissue is removed; (2) excisional biopsy, in which an entire lump or suspicious area is removed; and (3) needle biopsy, in which a sample of tissue or fluid is removed with a needle. When a wide needle is used, the procedure is called a core biopsy. When a thin needle is used, the procedure is called a fine-needle aspiration biopsy.

A tissue with red blood cells, white blood cells, platelets, and other substances suspended in fluid called plasma. Blood takes oxygen and nutrients to the tissues, and carries away wastes.

The part of the brain that is connected to the spinal cord.

The growth of abnormal cells in the tissues of the brain. Brain tumors can be benign (not cancer) or malignant (cancer).

A term for diseases in which abnormal cells divide without control and can invade nearby tissues. Cancer cells can also spread to other parts of the body through the blood and lymph systems. There are several main types of cancer. Carcinoma is cancer that begins in the skin or in tissues that line or cover internal organs. Sarcoma is cancer that begins in bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue. Leukemia is cancer that starts in blood-forming tissue such as the bone marrow, and causes large numbers of abnormal blood cells to be produced and enter the blood. Lymphoma and multiple myeloma are cancers that begin in the cells of the immune system. Central nervous system cancers are cancers that begin in the tissues of the brain and spinal cord.

The individual unit that makes up the tissues of the body. All living things are made up of one or more cells.

The brain and spinal cord. Also called CNS.

The portion of the brain in the back of the head between the cerebrum and the brain stem. The cerebellum controls balance for walking and standing, and other complex motor functions.

The fluid that flows in and around the hollow spaces of the brain and spinal cord, and between two of the meninges (the thin layers of tissue that cover and protect the brain and spinal cord). Cerebrospinal fluid is made by tissue called the choroid plexus in the ventricles (hollow spaces) in the brain. Also called CSF.

A dye or other substance that helps show abnormal areas inside the body. It is given by injection into a vein, by enema, or by mouth. Contrast material may be used with x-rays, CT scans, MRI, or other imaging tests.

A series of detailed pictures of areas inside the body taken from different angles. The pictures are created by a computer linked to an x-ray machine. Also called CAT scan, computed tomography scan, computerized axial tomography scan, and computerized tomography.

The process of identifying a disease, such as cancer, from its signs and symptoms.

The molecules inside cells that carry genetic information and pass it from one generation to the next. Also called deoxyribonucleic acid.

The functional and physical unit of heredity passed from parent to offspring. Genes are pieces of DNA, and most genes contain the information for making a specific protein.

A communication process between a specially trained health professional and a person concerned about the genetic risk of disease. The person's family and personal medical history may be discussed, and counseling may lead to genetic testing.

Analyzing DNA to look for a genetic alteration that may indicate an increased risk for developing a specific disease or disorder.

Transmitted through genes that have been passed from parents to their offspring (children).

Use of a syringe and needle to push fluids or drugs into the body; often called a "shot."

One of a pair of organs in the abdomen. Kidneys remove waste from the blood (as urine), produce erythropoietin (a substance that stimulates red blood cell production), and play a role in blood pressure regulation.

A medical procedure that involves testing a sample of blood, urine, or other substance from the body. Tests can help determine a diagnosis, plan treatment, check to see if treatment is working, or monitor the disease over time.

A procedure in which a thin needle called a spinal needle is put into the lower part of the spinal column to collect cerebrospinal fluid or to give drugs. Also called spinal tap.

Having to do with metastasis, which is the spread of cancer from one part of the body to another.

A procedure in which radio waves and a powerful magnet linked to a computer are used to create detailed pictures of areas inside the body. These pictures can show the difference between normal and diseased tissue. MRI makes better images of organs and soft tissue than other scanning techniques, such as computed tomography (CT) or x-ray. MRI is especially useful for imaging the brain, the spine, the soft tissue of joints, and the inside of bones. Also called magnetic resonance imaging, NMRI, and nuclear magnetic resonance imaging.

A feeling of sickness or discomfort in the stomach that may come with an urge to vomit. Nausea is a side effect of some types of cancer therapy.

A bundle of fibers that receives and sends messages between the body and the brain. The messages are sent by chemical and electrical changes in the cells that make up the nerves.

A series of questions and tests to check brain, spinal cord, and nerve function. The exam checks a person’s mental status, coordination, ability to walk, and how well the muscles, sensory systems, and deep tendon reflexes work.

A part of the body that performs a specific function. For example, the heart is an organ.

A doctor who identifies diseases by studying cells and tissues under a microscope.

PDQ is an online database developed and maintained by the National Cancer Institute. Designed to make the most current, credible, and accurate cancer information available to health professionals and the public, PDQ contains peer-reviewed summaries on cancer treatment, screening, prevention, genetics, complementary and alternative medicine, and supportive care; a registry of cancer clinical trials from around the world; and directories of physicians, professionals who provide genetics services, and organizations that provide cancer care. Most of this information, and more specific information about PDQ, can be found on the NCI's Web site at http://www.cancer.gov/cancertopics/pdq. Also called Physician Data Query.

The lower part of the abdomen, located between the hip bones.

An exam of the body to check for general signs of disease.

The original tumor.

The likely outcome or course of a disease; the chance of recovery or recurrence.

A molecule made up of amino acids that are needed for the body to function properly. Proteins are the basis of body structures such as skin and hair and of substances such as enzymes, cytokines, and antibodies.

An unstable form of a chemical element that releases radiation as it breaks down and becomes more stable. Radioisotopes may occur in nature or be made in a laboratory. In medicine, they are used in imaging tests and in treatment. Also called radionuclide.

Something that may increase the chance of developing a disease. Some examples of risk factors for cancer include age, a family history of certain cancers, use of tobacco products, certain eating habits, obesity, lack of exercise, exposure to radiation or other cancer-causing agents, and certain genetic changes.

A computer picture of areas inside the body created by bouncing high-energy sound waves (ultrasound) off internal tissues or organs. Also called ultrasonogram.

The bones, muscles, tendons, and other tissues that reach from the base of the skull to the tailbone. The spinal column encloses the spinal cord and the fluid surrounding the spinal cord. Also called backbone, spine, and vertebral column.

A column of nerve tissue that runs from the base of the skull down the back. It is surrounded by three protective membranes, and is enclosed within the vertebrae (back bones). The spinal cord and the brain make up the central nervous system, and spinal cord nerves carry most messages between the brain and the rest of the body.

A procedure to remove or repair a part of the body or to find out whether disease is present. An operation.

An indication that a person has a condition or disease. Some examples of symptoms are headache, fever, fatigue, nausea, vomiting, and pain.

A group or layer of cells that work together to perform a specific function.

An abnormal mass of tissue that results when cells divide more than they should or do not die when they should. Tumors may be benign (not cancer), or malignant (cancer). Also called neoplasm.

A type of gene that makes a protein called a tumor suppressor protein that helps control cell growth. Mutations (changes in DNA) in tumor suppressor genes may lead to cancer. Also called antioncogene.

A procedure in which high-energy sound waves are bounced off internal tissues or organs and make echoes. The echo patterns are shown on the screen of an ultrasound machine, forming a picture of body tissues called a sonogram. Also called ultrasonography.

A blood vessel that carries blood to the heart from tissues and organs in the body.

To eject some or all of the contents of the stomach through the mouth.

A type of high-energy radiation. In low doses, x-rays are used to diagnose diseases by making pictures of the inside of the body. In high doses, x-rays are used to treat cancer.