Impact of Cytogenetics on Clinical Outcome in AML

Abstract

Over the last three decades it has become clear that a significant proportion of cases of acute myeloid leukemia (AML) are characterized by at least one of a variety of recurrent chromosomal abnormalities. While there has been uncertainty as to which represent primary events in the pathogenesis of AML, those that provide oritical second hits that are required for progression to full-blown leukemia or those that are merely markers of the leukemic process, it is nevertheless clear that diagnostic karyotype is a key determinant of outcome in this disease. Moreover, there is mounting evidence to support the notion that cytogenetic analysis can serve to identify biologically distinct subsets of AML that demand tailored therapeutic approaches. This underpins the trend toward more widespread adoption of routine cytogenetic and molecular analysis in the characterization of patients with a diagnosis of acute leukemia. A key challenge for the future is to use information gained from cytogenetic analyses in conjunction with molecular diagnostics and gene expression profiling to achieve greater consensus in risk group assignment of AML, which will provide a more reliable framework for determining the most appropriate treatment approach for individual patients with this disease.