Familial rhabdoid tumour
Autoszomális domináns
SMARCB1- or SMARCA4-related predisposition to atypical teratoid/rhabdoid tumours of the brain and rhabdoid tumours of the kidney and soft tissue in early childhood; SMARCA4 also causes small cell carcinoma of the ovary.
Mit változtat a diagnózis
Brain and abdominal imaging in early childhood; relatives can be offered testing.
Más néven
familial posterior fossa brain tumor syndrome of infancy; familial posterior fossa brain tumour syndrome of infancy; hereditary rhabdoid tumor; hereditary rhabdoid tumour; rhabdoid predisposition syndrome; rhabdoid tumor predisposition syndrome; rhabdoid tumour predisposition syndrome; RTPS
2 kapcsolódó altípust tartalmaz ↓Altípusok elrejtése ↑
- rhabdoid tumor predisposition syndrome 1
- rhabdoid tumor predisposition syndrome 2
