RTPS is a genetic disease based on pathogenic variants<\/span>, i.e., changes to the genetic material in certain genes. In this case, the genes involved are SMARCB1<\/em> and SMARCA4<\/em>. Suppose a child suffers from an atypical teratoid\/rhabdoid tumor (a very aggressive brain tumor) or a malignant rhabdoid tumor (a malignant tumor of other tissues). In that case, whether there is a pathogenic variant<\/span> in one of the two genes should be investigated. The detection of such a pathogenic variant<\/span> could confirm the diagnosis of RTPS.<\/p>\nAs this is a hereditary disease, blood-related family members of a person with a detected pathogenic variant<\/span> in the SMARCB1<\/em> or SMARCA4<\/em> genes should also be genetically tested.<\/p>\n<\/div><\/div><\/div><\/div><\/div>