Table 4.
Gene | Organ at risk | Type of mutation |
||
---|---|---|---|---|
Germline truncating | Germline missense | |||
SMARCB1 | Brain | MRI q 3 months to age 5 years | No screening, generally no/very low risk | |
Abdomen | Consider WBMRI to age 5 years, undetermined frequency. Ultrasound q 3 months | No screening, generally no/very low riska | ||
SMARCA4 | Brain | No data available, risks likely very low | ||
Abdomen | No data available, risk likely low to very low | |||
Ovary | No data available, abdominal ultrasound q 6 months may be justified, role, if any, of MRI unknown. Preventive oophorectomy may be justified outside of the pediatric age range |
Abbreviations: q, every; WBMRI, whole-body MRI.
Schwannomas may result from missense mutations and may justify MRI.