rhabdoid tumor predisposition syndrome 1
Definition An inherited predisposition (OMIM:609322) to develop rhabdoid tumours, a highly malignant group of neoplasms that usually occur in early childhood.
Diagnosis FISH-interphase, detection of SMARCB1
Molecular pathology Defects in SMARCB1, which encodes a core component of the ATP-dependent chromatin-remodeling BAF (hSWI/SNF) complex that plays key roles in cell proliferation and differentiation, cause rhabdoid tumour predisposition syndrome 1.
Synonyms AT/RT, brain tumour—posterior fossa—of infancy—familial, malignant rhabdoid tumour, malignant rhabdoid tumour—somatic, MRT, rhabdoid predisposition syndrome, RTPS1, teratoid tumour—atypical