[Research progress on mechanism of MDS transformation into AML]

Myelodysplastic syndrome (MDS) is a clonal hematopoietic stem cell disorder characterized by ineffective hematopoiesis and a risk of transformation into acute leukemia. Approximately 30% of patients with MDS will progress and develop into acute myeloid leukemia (AML), especially in the patients with high-risk MDS, which can be named as secondary acute myeloid leukemia (sAML or MDS/AML). Generally, chemotherapy for sAML hardly has any efficacy. The only way to cure the patients with sAML is allogeneic hematopoietic stem cell transplantation, but unfortunately, only few patients are appropriate for transplantation. So it is important to study the mechanisms of progression of MDS to AML and to explore the potent drug for clinical use. This review summarizes the mechanism of MDS transformation into AML from chromosomal abnormality, aberrant DNA methylation and gene mutation, such as AML1/RUNX1 mutations, FLT3 mutations and PI-PLCβ1 mono-allelic deletion.