Atypical Teratoid Rhabdoid Tumor (ATRT) | Diagnosis & Treatment

How are atypical teratoid rhabdoid tumors diagnosed?

The first step in treating your child's atypical teratoid rhabdoid tumor (ATRT) is forming an accurate and complete diagnosis. ATRT is most commonly diagnosed from imaging studies and biopsy. Your child's doctor will likely conduct tests including:

  • a physical exam and complete medical history, including a neurological function test of reflexes, muscle strength, eye and facial movement, coordination, and alertness
  • magnetic resonance imaging (MRI), a diagnostic procedure that produces detailed images of the structures within the brain and spine
  • computerized tomography scan (CT or CAT scan), a diagnostic imaging procedure that uses a combination of X-rays and computer technology to produce cross-sectional images of the body from horizontal and vertical perspectives
  • biopsy, a tissue sample from the tumor during a surgical procedure
  • lumbar puncture (spinal tap), remove a small sample of cerebrospinal fluid (CSF) to determine if any tumor cells have spread
  • ultrasound, a diagnostic imaging procedure that does not use X-rays, but sound waves to evaluate organs in the body
  • genetic testing, to look for a specific genetic defect often associated with ATRT and to ensure your child is not at an increased risk of developing other tumors

There may be other diagnostic tests that your doctor will discuss with you depending on your child's individual situation. After we complete all necessary tests, our experts meet to review and discuss what they have learned about your child's condition. Then we will be able to discuss the results and outline the best possible treatment options.

How are ATRTs treated?

Your child's physician will determine a specific course of ATRT treatment based on several factors, including your child's age; overall health and medical history; the type, location and size of the tumor; and the extent of the disease.

ATRT treatments include:

  • Neurosurgery: Surgery is usually performed first in order to remove as much of the tumor as possible.
  • Radiation: High-energy waves from a specialized machine damage or shrink tumors. Precisely targeted and dosed radiation therapy is used to kill cancer cells left behind after surgery. Because ATRT occurs in children under 3, reduced intensity, limited field radiation therapy is used or radiation is avoided altogether; children over 3 generally receive radiation therapy as standard treatment.
  • Chemotherapy: Chemotherapy are drugs that interfere with the cancer cells' ability to grow or reproduce. Chemotherapy can be given in several different ways, but intrathecal chemotherapy is an important part of treatment as it allows medicine to be delivered directly to the spinal fluid and the central nervous system to treat the tumor.
  • Stem cell transplant: This allows children with aggressive ATRT to receive high doses of chemotherapy. This treatment aims to transfuse healthy bone marrow cells into your child after his marrow has been damaged by the intensive chemotherapy.

There is no standard treatment for recurrent ATRT. Children with recurrent disease are often referred to clinical trials for the latest experimental therapies.