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

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