The effectiveness of high-resolution-comparative genomic hybridization in detecting the most common chromosomal abnormalities in pediatric myelodysplastic syndromes

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. (c) 2005 Elsevier Inc. All rights reserved.