The two most common clinical features of RTPS are rhabdoid tumors. These malignant tumors can occur in the brain and are then called “atypical teratoid/rhabdoid tumors” (AT/RT); however, they can also form in other tissues and are then called “malignant rhabdoid tumors” (MRT). MRT are most frequently detected in the kidneys. Most AT/RT and MRT occur by the age of 3, although it is also possible for them to occur even later. Mutations of both genes (SMARCB1 or SMARCA4) can result in AT/RT and MRT developing.
In female patients who are carriers of an SMARCA4 mutation, it is also possible for ovarian cancer (small cell ovarian carcinoma of the hypercalcemic type) to occur during adolescence or adulthood.
In addition, it is also possible for other diseases linked with RTPS to occur, namely the following:
It is not uncommon for those affected to develop several of the tumors listed above at the same time.
Exact figures for the incidence rate are as yet unknown. Nor has it been determined to date how frequently a genetic change leads to the occurrence of tumors or other diseases. However, it has been possible to observe that the risk of developing atypical teratoid/rhabdoid tumors is considerably lower when there is a mutation in the SMARCA4 gene than when there is a mutation in the SMARCB1 gene.