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Rhabdoid predisposition syndrome

Written2000-02Nicolas Sévenet
Laboratoire de Pathologie Moleculaire des Cancers, INSERM U 509, Institut Curie, Paris, France
This article is an update of :
2000-01Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
1999-03Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

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Note 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

    Gene NameSMARCB1 (SW1/SNF related, matrix associated, actin dependent regulator of chromatin B1)
    Alias SNF5/INI1
    Location 22q11.23
    Germinal found in this syndrome
    Somatic 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


    Germ-line and acquired mutations of INI1 in atypical teratoid and rhabdoid tumors.
    Biegel JA, Zhou JY, Rorke LB, Stenstrom C, Wainwright LM, Fogelgren B
    Cancer research. 1999 ; 59 (1) : 74-79.
    PMID 9892189
    Paravertebral malignant rhabdoid tumor in infancy. In vitro studies of a familial tumor.
    Lynch HT, Shurin SB, Dahms BB, Izant RJ Jr, Lynch J, Danes BS
    Cancer. 1983 ; 52 (2) : 290-296.
    PMID 6861072
    Spectrum of hSNF5/INI1 somatic mutations in human cancer and genotype-phenotype correlations.
    Sévenet N, Lellouch-Tubiana A, Schofield D, Hoang-Xuan K, Gessler M, Birnbaum D, Jeanpierre C, Jouvet A, Delattre O
    Human molecular genetics. 1999 ; 8 (13) : 2359-2368.
    PMID 10556283


    This paper should be referenced as such :
    Sévenet, N
    Rhabdoid predisposition syndrome
    Atlas Genet Cytogenet Oncol Haematol. 2000;4(2):91-91.
    Free journal version : [ pdf ]   [ DOI ]
    On line version :
    History of this paper:
    Huret, JL. Rhabdoid tumor predisposition syndrome. Atlas Genet Cytogenet Oncol Haematol. 1999;3(2):107-107.
    Huret, JL. Rhabdoid predisposition syndrome. Atlas Genet Cytogenet Oncol Haematol. 2000;4(1):49-49.

    Other genes implicated (Data extracted from papers in the Atlas) [ 1 ]

    Genes SMARCB1

    External links

    OrphanetFamilial rhabdoid tumor
    Other databasetumor /diseases/7572/rhabdoid-tumor (GARD)
    Genes implicated inSMARCA4   [ Atlas ]   [ Entrez ]  [ LOVD ]  [ GeneReviews ]  
    Genes implicated inSMARCB1   [ Atlas ]   [ Entrez ]  [ LOVD ]  [ GeneReviews ]  

    REVIEW articlesautomatic search in PubMed
    Last year articlesautomatic search in PubMed

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    indexed on : Fri Oct 1 16:52:47 CEST 2021

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