Genetic testing and surveillance

Germline analysis should be considered for individuals of all ages with rhabdoid tumors. Genetic counseling is also part of the treatment plan, given the low-but-actual risk of familial recurrence. In cases of variants, parental screening should be considered, although such screening carries a low probability of positivity. Prenatal diagnosis can be performed in situations where a specific SMARCB1 variant or deletion has been documented in the family.[127]

To date, there is little evidence regarding the effectiveness of surveillance for patients with rhabdoid tumor predisposition syndrome type 1 caused by loss-of-function germline SMARCB1 pathogenic variants. However, because of the aggressive nature of the tumors with significant lethality and young age of onset in SMARCB1 carriers with truncating variants, consensus recommendations have been developed. These recommendations were developed by a group of pediatric cancer genetic experts (including oncologists, radiologists, and geneticists). They have not been formally studied to confirm the benefit of monitoring patients with germline SMARCB1 pathogenic variants. Given the potential survival benefit of surgically resectable disease, it is postulated that early detection might improve OS.[129-131]

Surveillance for patients with germline SMARCB1 pathogenic variants includes the following:

For information about SMARCB1 and rhabdoid tumor predisposition syndrome type 1, see Rhabdoid Tumor Predisposition Syndrome Type 1.