Progression of gene mutations in myelodysplastic syndromes

Myelodysplastic syndromes (MDS) are a group of heterogeneous and acquired clonal hematopoietic disorders diseases. In recent years, MDS-related gene mutations have become a research hotspot and important biological markers. The gene mutations of MDS varied. Among them, the gene mutation rate of RNA-splicing gene is the highest and gene mutation is related to the pathogenesis of MDS. SF3B1 mutation was first included in the diagnostic criteria by World Health Organization (WHO) in 2016 and the only good prognostic factor. Poor prognosis of gene mutations in the low-grade MDS may indicate the possibility of progression to high-grade MDS. The future of MDS treatment focuses target drugs. To further guide the clinical work, this article reviews the diversity of MDS-related mutations and its relationship with pathogenesis, diagnosis, treatment and prognosis. Key words: Myelodysplastic syndromes; Mutation; Diagnosis; Prognosis; Drug therapy