Chromosomal rearrangements in childhood acute myeloid leukemia and myelodysplastic syndromes

Recurrent chromosomal abnormalities present in the malignant cells of child ren with acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS) o ften correlate closely with specific clinical and biologic characteristics of the disease. Certain unique cytogenetic rearrangements are associated wi th distinct morphologic leukemic subtypes. These rearrangements should be d etectable in most children with AML and MDS with the use of complementary m olecular techniques such as fluorescence in situ hybridization (FISH), Sout hern blotting, and polymerase chain reaction. Apart from the diagnostic ass essment, cytogenetic findings sometimes predict clinical outcome and thus a lso serve as prognostic parameters, which may affect the therapeutic decisi on. Alternative classifications of AML that take into account the genetic i nformation are being proposed. Cytogenetic and molecular analyses may allow clinicians to more appropriately direct types of treatment. Abnormal fusio n transcripts and chimeric proteins derived from karyotypic abnormalities n ow are being also targeted by novel therapeutic approaches.