What is Rhabdoid Predisposition Syndrome?

Rhabdoid predisposition syndrome is a genetic condition in which individuals are born with an increased likelihood of developing soft tissue tumors called rhabdoid tumors. These develop primarily in the kidneys and brain, but can also develop elsewhere in the body, such as in the ovaries. In the brain, they are called atypical teratoid rhabdoid tumors (ATRT).

Most often, these tumors are diagnosed before a child’s fifth birthday, but they can also present in older individuals.

What are the causes?

This syndrome is caused by genetic changes in the SMARCA4 and SMARCB1 genes. Both of these genes act as organizers of the genome, specifically chromatic structuring and packing, or chromatin remodeling.

Individuals with rhabdoid predisposition syndrome are born with these changes, and in about 40 percent of cases the changes are passed down from one parent. Not everybody born with rhabdoid tumor predisposition syndrome will go on to develop these types of tumors.

How is rhabdoid predisposition syndrome diagnosed?

Rhabdoid predisposition syndrome can be diagnosed through genetic testing, which is often facilitated by a genetic counselor or genetics services provider.

Treatment and monitoring

Guidelines exist for monitoring of children and adults with rhabdoid predisposition syndrome. They include:

  • Brain MRI every three months until age 5
  • Ultrasound of abdomen every six months
  • Physical exams by pediatric hematologist/oncologist once a year