Rhabdoid Tumor Predisposition Syndrome (Rtps), Familial Schwannomatosis and Other Conditions Related To Smarcb1 or Ini1 Abnormalities - Abstract
Rhabdoid tumors are amongst the most aggressive and lethal forms of human cancer. They can arise in any location of the body but are more commonly observed in the brain and in the kidneys. The vast majority of rhabdoid tumors present with recurring loss of function of the SMARCB1 gene located at 22q11.2. Despite the highly malignant nature of rhabdoid tumors, they were proved to have a “remarkably simple genome” with SMARCB1inactivation recognized to be the sole recurrent genetic event involved in tumor development.
Rhabdoid Tumor Predisposition Syndrome (RTPS) presents with a constitutional loss or inactivation of one allele of the SMARCB1 gene, which results in an increased risk of developing rhabdoid tumors. It has been estimated that up to one third of patients with rhabdoid tumors present SMARCB1 germline mutations. In familial cases children tend to develop tumors at a younger age, have more extensive disease, and a shorter survival rate than children with sporadic cases. However, there have been cases of long-survivors among RTPS families and presently, the impact of germline mutation on survival remains unclear.
Here we review the literature on RTPS and other conditions related to SMARCB1 abnormalities. We suggest that genetic counseling should be recommended to the families bearing this condition and facilitated by their clinicians and institutions.