Rhabdoid tumor

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	hSNF5/INI1
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

Bibliography

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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.

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Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer.

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Germ-line and acquired mutations of INI1 in atypical teratoid and rhabdoid tumors.

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Contributor(s)

Written	03-1999	Jean-Loup Huret

Citation

This paper should be referenced as such :

Huret JL . Rhabdoid tumor. Atlas Genet Cytogenet Oncol Haematol. March 1999 . URL : http://AtlasGeneticsOncology.org/Tumors/rhabdoidID5037.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Thu Apr 17 14:15:02 2008

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