title: High-resolution oligonucleotide array comparative genomic hybridization study and methylation status of the RPS14 gene in de novo myelodysplastic syndromes.
abstract: In myelodysplastic syndromes (MDS), close to one half of patients do not have any visible karyotypic change. In order to study submicroscopic genomic alterations, we applied high-resolution array comparative genomic hybridization techniques (aCGH) in 37 patients with de novo MDS. Furthermore, we studied the methylation status of the RPS14 gene in 5q deletion (5q21.3q33.1) in 24 patients. In all, 21 of the 37 patients (57%) had copy number alterations. The most frequent copy number losses with minimal common overlapping areas were 5q21.3q33.1 (21%) and 7q22.1q33 (19%); the most frequent copy number gain was gain of the whole chromosome 8 (8%). Recurrent, but less frequent copy number losses were detected in two cases each: 11q14.1q22.1, 11q22.3q24.2, 12p12.2p13.31, 17p13.2, 18q12.1q12.2, 18q12.3q21.3, 18q21.2qter, and 20q11.23q12; the gains 8p23.2pter, 8p22p23.1, 8p12p21.1, and 8p11.21q21.2 were similarly found in two cases each. No homozygous losses or amplifications were observed. The RPS14 gene was not methylated in any of the patients.
authors.affiliation: Department of Pathology, Haartman Institute and HUSLAB, University of Helsinki and Helsinki University Central Hospital, Haartmaninkatu 3, FI-00290 Helsinki, Finland.
authors.forename: Ioana
authors.initials: I
authors.lastname: Borze
authors.forename: Eeva
authors.initials: E
authors.lastname: Juvonen
authors.forename: Shinsuke
authors.initials: S
authors.lastname: Ninomiya
authors.forename: Kowan Ja
authors.initials: KJ
authors.lastname: Jee
authors.forename: Erkki
authors.initials: E
authors.lastname: Elonen
authors.forename: Sakari
authors.initials: S
authors.lastname: Knuutila
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D055028:Comparative Genomic Hybridization / Q000379:methods; D019175:DNA Methylation; D005260:Female; D018628:Gene Dosage; D006801:Humans; D007621:Karyotyping; D008297:Male; D008875:Middle Aged; D009190:Myelodysplastic Syndromes / Q000235:genetics*; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods; D012269:Ribosomal Proteins / Q000235:genetics*; D055815:Young Adult
chemical_list: C526722:RPS14 protein, human; D012269:Ribosomal Proteins