title: Analysis of myelodysplastic syndromes with complex karyotypes by high-resolution comparative genomic hybridization and subtelomeric CGH array.
abstract: Molecular cytogenetic techniques enabled us to clarify numerical and structural alterations previously detected by conventional cytogenetic techniques in 37 patients who had myelodysplastic syndromes with complex karyotypes. Using high-resolution comparative genomic hybridization (HR-CGH), we found the most recurrent alterations to be deletion of 5q (70%), 18q (35%), 7q (32%), 11q (30%), and 20q (24%), gain of 11q (35%) and 8q (24%), and trisomy of chromosome 8 (19%). Furthermore, in 35% of the patients, 20 amplifications were identified. These amplifications were shown by FISH to involve some genes previously described as amplified in hematological malignancies, such as ERBB2, MLL, and RUNX1. In addition, two other genes, BCL6 and BCL2, which are classically related to apoptosis and non-Hodgkin lymphoma, were shown for the first time to be involved in amplification. Genomic alterations involving different subtelomeric regions with losses in 4p16, 5p15.3, 6q27, 18p11.3, and 18q23 and gains in 1p36.3 and 19p13.3 were detected by HR-CGH. Array CGH analysis of the subtelomeric regions in some samples was able to confirm a number of these alterations and found some additional alterations not detected by conventional CGH.
authors.affiliation: Department of Human Genetics, Spanish National Cancer Centre (CNIO), Madrid, Spain.
authors.forename: Angel
authors.initials: A
authors.lastname: Martínez-Ramírez
authors.forename: Miguel
authors.initials: M
authors.lastname: Urioste
authors.forename: Lorenzo
authors.initials: L
authors.lastname: Melchor
authors.forename: David
authors.initials: D
authors.lastname: Blesa
authors.forename: Laura
authors.initials: L
authors.lastname: Valle
authors.forename: Sara Alvarez
authors.initials: SA
authors.lastname: de Andrés
authors.forename: Klaas
authors.initials: K
authors.lastname: Kok
authors.forename: Maria José
authors.initials: MJ
authors.lastname: Calasanz
authors.forename: Juan Cruz
authors.initials: JC
authors.lastname: Cigudosa
authors.forename: Javier
authors.initials: J
authors.lastname: Benítez
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D002869:Chromosome Aberrations; D022202:Chromosomes, Artificial, Bacterial / Q000235:genetics; D002877:Chromosomes, Human / Q000235:genetics*; D050676:Core Binding Factor Alpha 2 Subunit; D004268:DNA-Binding Proteins / Q000235:genetics; D005260:Female; D018734:Genes, erbB-2 / Q000235:genetics; D011495:Histone-Lysine N-Methyltransferase; D006801:Humans; D007621:Karyotyping; D008297:Male; D008875:Middle Aged; D009190:Myelodysplastic Syndromes / Q000235:genetics*; D051788:Myeloid-Lymphoid Leukemia Protein; D009693:Nucleic Acid Hybridization; D011518:Proto-Oncogene Proteins / Q000235:genetics; D019253:Proto-Oncogene Proteins c-bcl-2; D051560:Proto-Oncogene Proteins c-bcl-6; D011519:Proto-Oncogenes / Q000235:genetics; D016615:Telomere / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics
chemical_list: D050676:Core Binding Factor Alpha 2 Subunit; D004268:DNA-Binding Proteins; C497422:KMT2A protein, human; D011518:Proto-Oncogene Proteins; D019253:Proto-Oncogene Proteins c-bcl-2; D051560:Proto-Oncogene Proteins c-bcl-6; C493728:RUNX1 protein, human; D014157:Transcription Factors; D051788:Myeloid-Lymphoid Leukemia Protein; D011495:Histone-Lysine N-Methyltransferase