Myelodysplastic syndromes (MDS) are myeloid neoplasms characterized by dysplasia in one or more cell lines, ineffective hematopoiesis and variable risk of progression to acute myeloid leukemia. In the past few years, important steps have been taken in characterizing the molecular basis of MDS. More recently, somatic mutations in genes encoding core components of the RNA splicing machinery have been detected in high proportions of MDS patients, and are shown to be founding mutations in many instances. These mutations have different clinical significance, and their incorporation into current stratification systems might improve risk assessment in MDS.
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