Myelodysplastic syndromes (MDS) are a heterogenous group of myeloid hematological malignancies. The condition is characterized by dysplasia and ineffective hematopoiesis, and there is a risk of progression to acute myeloid leukemia (AML) in these patients. MDS is grouped by both the type of cells affected and risk of developing AML.
The cause of most cases of MDS is unknown, although there are risk factors. Certain chemicals, heavy metal exposure, advanced age and prior cancer treatment all increase the risk of developing MDS. Treatment includes chemotherapy, immunosuppressants and stem cell transplant. ASCT can result in long-term remission in patients; however, it is not suitable for the majority of patients, who are older.
An increasing number of recurrently mutated genes have been identified in MDS; these typically function in RNA splicing, epigenetic and transcriptional regulation and signal transduction. From this, a number of therapeutic targets have emerged, including EZH2/IDH.