Rhabdoid Tumor Predisposition Syndrome

What is rhabdoid tumor predisposition syndrome?

Rhabdoid tumors are abnormal growths that frequently affect the brain, kidneys or spinal cord, among other parts of the body.

The condition is related to mutations in the SMARCB1 or SMARCA4 genes. Individuals affected with rhabdoid tumor predisposition syndrome are more likely to grow these tumors than the general population. People with the disease may have some benign tumors but also do have an increased risk of cancer. In the brain the tumors are called ATRT- atypical  teratoid rhabdoid tumors.

What causes rhabdoid tumor predisposition syndrome?

Rhabdoid tumor predisposition syndrome is caused by genetic mutations. Sometimes these mutations are passed along from parents to children, but in many cases they occur randomly.

What are the symptoms of rhabdoid tumor predisposition syndrome?

The increased risk of developing tumors is the primary sign of rhabdoid tumor predisposition syndrome. Many people with the disease have no symptoms, though pain, numbness, tingling or other symptoms related to the presence of the tumors can occur in some. Headaches, vomiting or double vision or balance problems may occur in brain tumors. Kidney tumors may present with a hard swelling in abdomen or blood in urine.

What are rhabdoid tumor predisposition syndrome care options?

Individuals with rhabdoid tumor predisposition syndrome are often under close observation due to their increased risk of cancer. If a tumor occurs and is problematic, it may need to be removed surgically. Chemotherapy and radiation are effective if the tumor is malignant.

Surveillance with abdominal ultrasounds or whole body MRI is recommended.


Reviewed by: Ziad A Khatib, MD

This page was last updated on: 6/21/2019 2:25:15 AM


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