Interphase cytogenetics in the diagnostics and follow up of children with malignant diseases

Acquired genomic changes have long been associated with malignancy. Findings of specific chromosome aberrations and gene abnormalities have an important role in providing an initial diagnosis, in predicting clinical outcome, in risk stratification, appropriate therapy selection and follow up of patients with malignant diseases. Nowadays different methods are available for chromosome and gene analysis. Of particular clinical significance is the method of interphase fluorescence in situ hybridization (FISH). This paper briefly outlines the current knowledge of the clinical application of interphase FISH, highlighting the advantages of the FISH method over metaphase cytogenetics and methods of molecular DNA analysis. The brief description and application of different DNA probe types for the detection of numerical chromosome aberrations, gene fusions, gene deletions, gene amplifications and specific gene breaks are reported.

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