Abstract
On average, 30% of patients with myelodysplastic syndrome (MDS) develop overt acute myeloid leukemia (AML) during the course of the disease. There is a continuous search for the best model of individual risk assessment for MDS patients. In this review, we summarize current findings on factors that have been associated with increased risk of AML transformation. These include laboratory values such as high lactate dehydrogenase levels, complex karyotypes, numbers and aberrant immunophenotype of bone marrow blasts, bone marrow-related features such as numbers and distribution of CD34+ cells, and recently established molecular markers. A wide range of described molecular aberrations in MDS, including various gene mutations, chromosomal instability, short telomeres, high levels of gene methylation, and histone modification, partly explains clinical heterogeneity of this disease. Continuous research will bring more insight in the pathogenesis of various MDS categories, making individual risk assessment and tailored therapy for each patient possible.
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