Rhabdoid predisposition syndrome

2000-02-01   Nicolas Sévenet 

Laboratoire de Pathologie Moleculaire des Cancers, INSERM U 509, Institut Curie, Paris, France



Rhabdoid predisposition syndrome


601607 , 609322 , 13325


C563738; C567643


231108 Familial rhabdoid tumor





the following observations have suggested that a new cancer-prone disease, related to the gene hSNF5\/INI, could be delineated:
  • two siblings with a paravertebral malignant rhabdoid tumor in the first year of life and a poor outcome; no family history;
  • renal rhabdoid tumors associated with tumors of the central nervous system in a given patient
  • germ-line mutations of INI1 identified in four children, three with renal rhabdoid tumors and one with an atypical teratoid tumor of the brain (out of 18 atypical teratoid and rhabdoid tumors studied)
  • and 4 recent pedigrees with - malignant rhabdoid tumor, choroid plexus carcinoma, atypical teratoid tumor, medulloblastoma, and\/or primitive neuroectodermal tumor, - either occurring in sibs or in a given patient, - with a INI1 point mutation in the tumor DNA and loss of wild type allele and\/or heterozygosity for the mutation in constitutional DNA
  • Phenotype and clinics

    no apparent stigmata

    Neoplastic risk

    malignant rhabdoid tumors and atypical teratoid tumors, choroid plexus carcinomas, medulloblastomas, and primitive neuroectodermal tumors; highly aggressive tumors; very early onset in children or infants, and, apparently , high penetrance

    Genes involved and Proteins




    found in this syndrome


    mutation and allele loss events in sporadic rhabdoid tumors, primitive neurectodermal tumors, medulloblastoma, or choroid plexus carcinoma are in accordance with the two-hit model for neoplasia, as is found in retinoblastoma

    To be noted


    593871 SMARCB1


    Pubmed IDLast YearTitleAuthors
    98921891999Germ-line and acquired mutations of INI1 in atypical teratoid and rhabdoid tumors.Biegel JA et al
    68610721983Paravertebral malignant rhabdoid tumor in infancy. In vitro studies of a familial tumor.Lynch HT et al
    105562831999Spectrum of hSNF5/INI1 somatic mutations in human cancer and genotype-phenotype correlations.Sévenet N et al