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
    98921891999Germ-line and acquired mutations of INI1 in atypical teratoid and rhabdoid tumors.Biegel JA et al
    85921691995Clinicopathologic and cytogenetic analysis of malignant rhabdoid tumor of the central nervous system.Hasserjian RP et al
    80923931994The clinicopathologic spectrum of putative extrarenal rhabdoid tumors. An analysis of 42 cases studied with immunohistochemistry or electron microscopy.Parham DM et al
    94913181998Cytogenetic 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 et al
    88247201996Loss of heterozygosity at chromosome regions 22q11-12 and 11p15.5 in renal rhabdoid tumors.Schofield DE et al
    96713071998Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer.Versteege I et al
    16568021991Renal neoplasms mimicking rhabdoid tumor of kidney. A report from the National Wilms' Tumor Study Pathology Center.Weeks DA et al
    85455901995Malignant rhabdoid tumors: a clinicopathologic review and conceptual discussion.Wick MR et al

    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)