title: Translocation (1;22)(p36;q11.2) with concurrent del(22)(q11.2) resulted in homozygous deletion of SNF5/INI1 in a newly established cell line derived from extrarenal rhabdoid tumor.
abstract: Malignant rhabdoid tumor (MRT) is a highly malignant pediatric cancer, which arises in various sites such as the kidney, brain, and soft tissues. Cytogenetic studies have revealed alterations of 22q11 in MRT. Recently, deletions and mutations of the SNF5/INI1 locus in 22q11.2 have been reported in MRT, suggesting that SNF5/INI1 is a tumor suppressor gene for MRT. Here we report our molecular cytogenetic study for a newly established cell line from extrarenal MRT with t(1;22)(p36;q11.2). Consequently, the reciprocal translocation was associated with the interstitial deletion of a small segment including SNF5/INI1, and another, chromosome 22, showed terminal deletion, the breakpoint of which was located 70-80 kb centromeric to SNF5/INI1, resulting in homozygous deletion of SNF5/INI1 in this cell line.
authors.affiliation: Department of Molecular Cytogenetics, Medical Research Institute and Graduate School of Biomedical Science, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo 113-8510, Japan.|Core Research for Evolutionary Science and Technology, Japan Science and Technology Corporation, Kawaguchi, Japan.
authors.forename: Akiko
authors.initials: A
authors.lastname: Misawa
authors.affiliation: Department of Pediatrics, Kyoto Prefectural University of Medicine, Kyoto, Japan.
authors.forename: Hajime
authors.initials: H
authors.lastname: Hosoi
authors.affiliation: Department of Molecular Cytogenetics, Medical Research Institute and Graduate School of Biomedical Science, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo 113-8510, Japan.|Core Research for Evolutionary Science and Technology, Japan Science and Technology Corporation, Kawaguchi, Japan.
authors.forename: Issei
authors.initials: I
authors.lastname: Imoto
authors.affiliation: Department of Pediatrics, Kyoto Prefectural University of Medicine, Kyoto, Japan.
authors.forename: Tomoko
authors.initials: T
authors.lastname: Iehara
authors.affiliation: Department of Pediatrics, Kyoto Prefectural University of Medicine, Kyoto, Japan.
authors.forename: Tohru
authors.initials: T
authors.lastname: Sugimoto
authors.affiliation: Department of Molecular Cytogenetics, Medical Research Institute and Graduate School of Biomedical Science, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo 113-8510, Japan. johinaz.cgen@mri.tmd.ac.jp.|Core Research for Evolutionary Science and Technology, Japan Science and Technology Corporation, Kawaguchi, Japan. johinaz.cgen@mri.tmd.ac.jp.|Center of Excellence Program for Frontier Research on Molecular Destruction and Reconstitution of Teeth and Bone, Tokyo Medical and Dental University, Tokyo, Japan. johinaz.cgen@mri.tmd.ac.jp.
authors.forename: Johji
authors.initials: J
authors.lastname: Inazawa
mesh_terms: D001483:Base Sequence; D045744:Cell Line, Tumor; D002675:Child, Preschool; D002868:Chromosomal Proteins, Non-Histone; D002872:Chromosome Deletion; D002878:Chromosomes, Human, Pair 1; D002880:Chromosomes, Human, Pair 11; D002892:Chromosomes, Human, Pair 22; D017931:DNA Primers; D004268:DNA-Binding Proteins / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007621:Karyotyping; D008297:Male; D018335:Rhabdoid Tumor / Q000235:genetics*; D000071796:SMARCB1 Protein; D013899:Thoracic Neoplasms / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*; D014178:Translocation, Genetic
chemical_list: D002868:Chromosomal Proteins, Non-Histone; D017931:DNA Primers; D004268:DNA-Binding Proteins; D000071796:SMARCB1 Protein; C513266:SMARCB1 protein, human; D014157:Transcription Factors