Rhabdoid tumor del(22)(q11)

1999-03-01   Jean-Loup Huret  

1.Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Classification

Classification

  • 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%)

    Cytogenetics

    Cytogenetics morphological

  • 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 (SW1/SNF related, matrix associated, actin dependent regulator of chromatin B1)

    Location

    22q11.23

    Germinal mutations

    found in the rhabdoid tumor predisposition syndrome.

    Somatic mutations

    mutation and allele loss events in sporadic rhabdoid tumors are in accordance with the two-hit model for neoplasia, as is found in retinoblastoma

    Article Bibliography

    Pubmed IDLast YearTitleAuthors
    9892189Not available in PubMed
    8592169Not available in PubMed
    8092393Not available in PubMed
    9491318Not available in PubMed
    8824720Not available in PubMed
    9671307Not available in PubMed
    1656802Not available in PubMed
    8545590Not available in PubMed

    Citation

    Jean-Loup Huret

    Rhabdoid tumor del(22)(q11)

    Atlas Genet Cytogenet Oncol Haematol. 1999-03-01

    Online version: http://atlasgeneticsoncology.org/solid-tumor/5037/rhabdoid-tumor-del(22)(q11)