Purpose of review: Molecular mutations play an increasing role for classification, prognostication, and therapeutic strategies in acute myeloid leukemia and myelodysplastic syndrome. Due to the rapid expansion of known molecular markers, this paper aims to outline some of the recent progress to improve understanding of the pathogenesis in these myeloid malignancies.
Recent findings: Novel concepts conceive myelodysplastic syndrome and acute myeloid leukemia as endpoints of a continuous process of leukemogenesis, which is characterized by the interaction of mutations interfering with transcription and differentiation with activating mutations enhancing proliferation. The detection of novel molecular mutations such as NPM1 widened the spectrum of molecular markers in acute myeloid leukemia. Finally, attention focusses on detailed subtyping of already known molecular markers.
Summary: The fast progress in the molecular characterization of acute myeloid leukemia and myelodysplastic syndrome in recent years provides the basis for an optimization of therapeutic concepts. The introduction of new methods such as gene expression profiling catalyzes this process.