title: Chromosome mechanisms and INI1 inactivation in human and mouse rhabdoid tumors.
abstract: The human rhabdoid tumorigenesis orchestrated by INI1 inactivation is associated with specific rearrangements of chromosome 22 that correlate with preferential anatomic tumor locations. A literature review revealed significant correlations between an apparently normal karyotype and kidney tumors, monosomy 22 and cerebral tumors, and chromosome 22 translocations and tumors at other anatomic sites. In the mouse rhabdoid tumor model, specifically in the four tumors that we tested for loss of heterozygosity, neither partial deletion nor monosomy of chromosome 10 could be detected. In contrast to the human data, the only chromosome mechanism involved in the 18 mouse tumors studied appears to be a mitotic recombination or a nondisjunction-duplication. Additionally, and despite mouse tumor incidence across a variety of sites, no rhabdoid tumor could be observed in the mouse kidney. These data suggest that the chromosome mechanisms for INI1 inactivation and the selective cell survival pressure differ in human and mouse.
authors.affiliation: INSERM U509, Institut Curie-Section Recherche, 26 rue d'Ulm, 75248 Paris Cedex 05, France. Marie-Francoise.Merck@curie.fr
authors.forename: Marie-Françoise
authors.initials: MF
authors.lastname: Rousseau-Merck
authors.forename: Laurence
authors.initials: L
authors.lastname: Fiette
authors.forename: Agnès
authors.initials: A
authors.lastname: Klochendler-Yeivin
authors.forename: Olivier
authors.initials: O
authors.lastname: Delattre
authors.forename: Alain
authors.initials: A
authors.lastname: Aurias
mesh_terms: D000818:Animals; D002868:Chromosomal Proteins, Non-Histone; D002869:Chromosome Aberrations; D002892:Chromosomes, Human, Pair 22; D004268:DNA-Binding Proteins / Q000235:genetics*; D016147:Genes, Tumor Suppressor; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007680:Kidney Neoplasms / Q000235:genetics; D051379:Mice; D009154:Mutation; D011995:Recombination, Genetic; D018335:Rhabdoid Tumor / Q000235:genetics*; D000071796:SMARCB1 Protein; D014157:Transcription Factors
chemical_list: D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins; D000071796:SMARCB1 Protein; C513266:SMARCB1 protein, human; C513265:Smarcb1 protein, mouse; D014157:Transcription Factors