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Abstract
The recent WHO classification for acute leukemias and Myelodysplastic syndrome separates entities by recurrent cytogenetic abnormalities and immunophenotypic features presenting prognostic impact. These are diagnosed by peripheral blood counts, bone marrow cytology, cytochemistry, cytogenetics and immunophenotyping. A number of risk factors has been identified that characterize patients at diagnosis as well as during their clinical course. At diagnosis these parameters include age, cytogenetic configuration, hemopoietic elements, and a previous history of myelodysplasia or cytoreductive therapy for a pre-existing malignancy. They are complemented by the response to induction therapy and subsequent treatments as well as by the duration of response
Routine cytogenetic analysis provides important information on diagnostic and prognostic relevance for hematological malignancies. However, it is often difficult to obtain good karyotypes, especially of cells from cases with acute leukemia (e.g. ALL) of poor morphology and spreading. On the other hand, Complex chromosomal aberrations are present in < or =30% of patients with primary myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML) and are associated with a poor prognosis. Specific alterations in complex karyotypes are defined by novel cytogenetic techniques as comparative genomic hybridization (CGH), spectral karyotyping (SKY) and fluorescence in situ hybridization (FISH) with selected probes.