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Acute Teratoid Rhabdoid Tumor

  • Overview

    A rhabdoid tumor is a rare and highly malignant tumor of childhood, first described in 1978. These tumors were initially considered an aggressive variant of Wilms' tumor of the kidney, however, with newer diagnostic techniques, these tumors are believed to represent a distinct entity. Since that time, there have been fewer than 50 cases reported, although it is likely that some cases previously identified as medulloblastoma or as primitive neuroectodermal tumors (PNET) are in fact rhabdoid tumors.

    These tumors occur in young children, mean age at diagnosis of 3.5 years, with a range of 2 to 13 years. There are no reported cases in adults. Rhabdoid tumors occur equally in males and females. The location can be supratentorial, intraventicular, and infratentorial.

    As you read further, you will find general information about rhabdoid tumors. If you would like to view summary information about brain tumors first, see the overview on brain tumors.

  • In-Depth

    What are the symptoms of a rhabdoid tumor? 

    The symptoms depend on the location of the tumor and the age of the child. The following are the most common symptoms of a rhabdoid tumor; however each child may experience symptoms differently. Common symptoms may include:   

    • seizures - can be the only presenting sign for supratentorial lesions
    • hydrocephalus - enlargement of the skull and pressure on the brain
    • raised intracranial pressure - the tumor blocks the normal flow of cerebrospinal fluid and the tumor causes increased production of fluid, resulting in headaches, morning vomiting, lethargy, and disturbances in walking
    • enlarged head size or fontanels (the soft "spot" that occurs before the bones in the head become solid) in infants

    Due to the aggressiveness of these tumors, the duration of symptoms before coming to medical attention is relatively short.

    The symptoms of a brain tumor may resemble other conditions or medical problems. Always consult your child's physician for a diagnosis.

    How are rhabdoid tumors classified? 

    Rhabdoid tumors are considered mesenchymal nonmeningothelial tumors within the WHO classification. These tumors are distinct from rhabdomyosarcomas. Immunohistochemical staining shows positivity for vimentin, cytokeratin, and epithelial membrane antigen. Neural markers are variably present. A characteristic cytogenetic abnormality has been identified, the deletion of 22q (22q11) which can aid in differentiating these tumors from other poorly differentiated malignant brain tumors.

  • Tests

    Diagnostic procedures for rhabdoid tumor may include: 

    • magnetic resonance imaging (MRI) - a diagnostic procedure that uses a combination of large magnets, radiofrequencies, and a computer to produce detailed images of organs and structures within the body. MRI provides greater anatomical detail than CT scan and can better distinguish between tumor, tumor-related swelling and normal tissue.
    • magnetic resonance spectroscopy (MRS) - a test done along with MRI at specialized facilities that can detect the presence of particular organic compounds produced by the body's metabolism within sample tissue that can identify tissue as normal or tumor, and may be able to distinguish between glial tumors and tumors of neuronal origin
  • Specific treatment for a rhabdoid tumor will be determined by your child's physician based on:   

    • your child's age, overall health, and medical history
    • type, location, and size of the tumor
    • extent of the disease
    • your child's tolerance for specific medications, procedures, or therapies
    • how your child's doctors expect the disease to progress
    • your opinion or preference

    A multidisciplinary approach, involving the neurosurgeon, pediatric oncologist, neurologist, and radiation oncologist is needed for these patients.

    Treatment may include (alone or in combination):   

    • surgery - aggressive surgical removal followed by chemotherapy is standard treatment
    • radiation therapy - children over 3 years of age will receive craniospinal radiotherapy with a boost to the primary tumor. For children under 3, radiotherapy is generally deferred, however, focal radiation therapy has been incorporated into some treatment protocols designed for this age group. Radiation therapy uses high-energy rays (radiation) from a specialized machine to damage or kill cancer cells and shrink tumors.
    • chemotherapy - a drug treatment that works by interfering with the cancer cell's ability to grow or reproduce. Different groups of chemotherapy drugs work in different ways to fight cancer cells and shrink tumors. Often, a combination of chemotherapy drugs is used to fight a specific cancer. Certain chemotherapy drugs may be given in a specific order depending on the type of cancer it is being used to treat.

    While chemotherapy can be quite effective in treating certain cancers, the agents do not differentiate normal healthy cells from cancer cells. Because of this, there can be many adverse side effects during treatment. Being able to anticipate these side effects can help the care team, parents, and child prepare, and, in some cases, prevent these symptoms from occurring, if possible.

    Chemotherapy is systemic treatment, meaning it is introduced to the bloodstream and travels throughout the body to kill cancer cells. Chemotherapy can be given:

    • as a pill to swallow
    • as an injection into the muscle or fat tissue
    • intravenously (directly to the bloodstream; also called IV)
    • intrathecally - chemotherapy given directly into the spinal column with a needle

    Chemotherapy regimens have varied for patients with rhabdoid tumors, although none has been considered curative. Protocols have used cis-platin, VP-16, cyclophosphamide, and vincristine. Regimens for extracranial rhabdoid tumors have employed ifosfamide, doxorubicin, vincristine, and cyclophosphamide. The prognosis is very poor although objective responses have been observed but the duration is 2 to 5 months from diagnosis. Recurrent disease is managed symptomatically with consideration for palliative surgery and/or radiotherapy.

  • Research & Innovation

    What is the latest research on rhabdoid tumors? 

    Children's Hospital and Dana-Farber Cancer Institute are conducting numerous research studies that will help clinicians better understand and treat rhabdoid tumors. For more information on current research, see the Brain Tumor Program.

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