title: The effectiveness of high-resolution-comparative genomic hybridization in detecting the most common chromosomal abnormalities in pediatric myelodysplastic syndromes.
abstract: Myelodysplastic syndromes (MDS) are a diverse and heterogeneous group of clonal and potentially malignant bone marrow (BM) disorders. The up-to-date used criteria are the ones proposed by the French-American-British (FAB) group in 1982, the World Health Organization (WHO) classification, and a new, recently presented classification: categories cytology cytogenetics (CCC) system or 2003 WHO classification scheme. Comparative genomic hybridization (CGH) is a technique that permits the detection of chromosomal imbalances within a "one step" analysis. In our study, we present 5 cases of MDS and 4 cases of acute myelogenous leukemia (AML). By means of high-resolution CGH (HR-CGH) analysis, we were able to detect DNA copy number alterations in 8 out of 9 samples. The changes were as follows: -7, -Y, del(5)(q33q34), del(11)(q22q24), del(5p), del(9)(q21q31), nullisomy X, and +8. In 5/9 cases the HR-CGH data were highly comparable with conventional cytogenetics and interphase/metaphase fluorescence in situ hybridization findings. Additionally, in 3 BM samples the HR-CGH revealed the presence of changes that had not been detected by conventional cytogenetics: del(5p), del(5)(q33q34), del(9)(q21q31), and nullisomy X. The high effectiveness, specificity, and sensitivity of this method are in concordance with the conventional cytogenetics and FISH findings and the ability to detect new changes.
authors.affiliation: Department of Pediatric Hematology and Oncology, Cytogenetic Laboratory, Children's University Hospital, Chodźki Street 2, 20 - 093 Lublin, Poland. mmbababicz@dsk.lublin.pl
authors.forename: Mariusz
authors.initials: M
authors.lastname: Babicz
authors.forename: Jerzy R
authors.initials: JR
authors.lastname: Kowalczyk
authors.forename: Dorota
authors.initials: D
authors.lastname: Winnicka
authors.forename: Anna
authors.initials: A
authors.lastname: Gaworczyk
authors.forename: Monika
authors.initials: M
authors.lastname: Lejman
authors.forename: Rafal
authors.initials: R
authors.lastname: Dmowski
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Kaczanowska
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D009190:Myelodysplastic Syndromes / Q000235:genetics*; D009693:Nucleic Acid Hybridization