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Myelodysplastic syndrome (MDS) is a cluster of heterogeneous clonal hematopoietic neoplasm which is manifested by peripheral cytopenias,lineage dysplasia,and a substantial risk of progression to acute myeloid leukemia (AML).Approximately more than 80％ of MDS patients have been shown to harbor gene mutations.The mutations have been found to be related to epigenetic alterations (including DNA methylation and histone modification TET2,DNMT3A,IDH1/2,WT1,EZH2 and ASXL1),RNA splicing (SF3B1,SRSF2,U2AF1,ZRSR and PRPF8),transcription regulation (RUNX1,TP53),signal transduction (NRAS,KRAS,CBL,JAK2).Recent advances in the molecular pathogenesis of MDS may contribute to the clinical diagnosis,risk stratification,prognostic assessment and therapeutic insights of this disease.This paper will review these genes involved in MDS patients.