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The presence of genetic alterations was investigated by SNP array in combinationwith conventional and spectral karyotyping and fluorescence in situ hybridizationanalysis of 75 consecutive pediatric bone marrow samples. The samples were collectedat diagnosis from all children diagnosed with malignant hematological diseasebetween 2006 and 2010 at a single diagnostic center in Gothenburg, Sweden. Conventionalcytogenetic and molecular genetics techniques are up to this date essential forthe clinical laboratories but there is a need for higher resolution techniquesin order to identify new genetic markers that eventually can improve the managementof these disorders. Here, we conclude that the addition of SNP array-based karyotypingcombined with conventional cytogenetics increase the diagnostic accuracy of pediatrichematological malignancies. The two techniques enhance the cytogenetic image andshould not be contrasted as they meet distinct important roles. Since balancedtranslocations cannot be detected with the SNP arrays of today and tumor-specifictranslocations are very important diagnostic and prognostic indicators we suggestthat SNP-based array is a valuable adjuvant tool in the cytogenetic diagnosticsof pediatric leukemias but cannot replace currently used techniques, i.e. G-banding,SKY and FISH analysis.

High-resolution copy number array in the molecular cytogenetic diagnostics of pediatric malignant hematological disorders