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Rhabdoid tumor

Written1999-03Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

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Atlas_Id 5037
Phylum Other:Rhabdoid tumor


  • primarily described as rhabdoid tumor of the kidney (RTK), further extended to tumors of other primary sites : extrarenal rhabdoid tumor (ERRT, or malignant extrarenal rhabdoid tumor MERT)
  • they present a wide histological, ultrastructural, and immunocytochemical spectrum
  • may represent a heterogeneous group of neoplasms and also invite confusion with other renal or extrarenal neoplasms, of which is the Favorable Histology Wilms' tumor (with a fair prognosis)
  • finally composite extrarenal rhabdoid tumors (CERT) with a recognizable parent neoplasm admixed with MERT appear to be of various origin
  • the recent finding that hSNF5/INI1is involved in true rhabdoid tumors is of paramount importance in this context
  • Clinics and Pathology

    Embryonic origin uncertain histiogenesis
    Epidemiology RTK occurs in infancy and early childhood, median age is 11 mths; unbalanced sex ratio (1.5M/1F); ERRT have been observed in a broader range of patient ages
    Clinics often located in the kidney, may occur in various anatomic sites, such as the central nervous system or soft tissues
    Prognosis highly aggressive; 80% mortality rate with frequent metastases, predominantly pulmonary; a large study 10 yrs ago found a better outcome for girls (> 50% survival) than for boys (10%)


  • normal karyotype or 22q11.2 involvement in a t(Var; 22)(-;q11.2) or in del(22q).
  • loss of heterozygosity (LOH) on chromosome 22; LOH can also occur at chromosome band 11p15.5, indicating that a second gene may also be involved in addition in a subset of rhabdoid tumors
  • Genes involved and Proteins

    Gene Name SMARCB1
    Location 22q11.2
    Germinal mutation found in the rhabdoid tumor predisposition syndrome.
    Somatic mutation mutation and allele loss events in sporadic rhabdoid tumors are in accordance with the two-hit model for neoplasia, as is found in retinoblastoma


    Rhabdoid tumor of kidney. A report of 111 cases from the National Wilms' Tumor Study Pathology Center.
    Weeks DA, Beckwith JB, Mierau GW, Luckey DW
    The American journal of surgical pathology. 1989 ; 13 (6) : 439-458.
    PMID 2543225
    Renal neoplasms mimicking rhabdoid tumor of kidney. A report from the National Wilms' Tumor Study Pathology Center.
    Weeks DA, Beckwith JB, Mierau GW, Zuppan CW
    The American journal of surgical pathology. 1991 ; 15 (11) : 1042-1054.
    PMID 1656802
    The clinicopathologic spectrum of putative extrarenal rhabdoid tumors. An analysis of 42 cases studied with immunohistochemistry or electron microscopy.
    Parham DM, Weeks DA, Beckwith JB
    The American journal of surgical pathology. 1994 ; 18 (10) : 1010-1029.
    PMID 8092393
    Clinicopathologic and cytogenetic analysis of malignant rhabdoid tumor of the central nervous system.
    Hasserjian RP, Folkerth RD, Scott RM, Schofield DE
    Journal of neuro-oncology. 1995 ; 25 (3) : 193-203.
    PMID 8592169
    Malignant rhabdoid tumors: a clinicopathologic review and conceptual discussion.
    Wick MR, Ritter JH, Dehner LP
    Seminars in diagnostic pathology. 1995 ; 12 (3) : 233-248.
    PMID 8545590
    Loss of heterozygosity at chromosome regions 22q11-12 and 11p15.5 in renal rhabdoid tumors.
    Schofield DE, Beckwith JB, Sklar J
    Genes, chromosomes & cancer. 1996 ; 15 (1) : 10-17.
    PMID 8824720
    Cytogenetic and molecular analysis of a t(1;22)(p36;q11.2) in a rhabdoid tumor with a putative homozygous deletion of chromosome 22.
    Rosty C, Peter M, Zucman J, Validire P, Delattre O, Aurias A
    Genes, chromosomes & cancer. 1998 ; 21 (2) : 82-89.
    PMID 9491318
    Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer.
    Versteege I, Sˆ©venet N, Lange J, Rousseau-Merck MF, Ambros P, Handgretinger R, Aurias A, Delattre O
    Nature. 1998 ; 394 (6689) : 203-206.
    PMID 9671307
    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


    This paper should be referenced as such :
    Huret, JL
    Rhabdoid tumor
    Atlas Genet Cytogenet Oncol Haematol. 1999;3(2):105-106.
    Free journal version : [ pdf ]   [ DOI ]
    On line version :

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


    External links

    Other databaseTumor Portal - Broad Institute
    REVIEW articlesautomatic search in PubMed
    Last year articlesautomatic search in PubMed

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