Research progression of SF3B1 mutations in patients with myelodysplastic syndromes
Myelodysplastic syndromes(MDS)are a group of clonal malignant diseases that originate from hematopoietic stem cells.The current pathogenesis of MDS is unclear,but genetic mutations are closely related to the initiation of MDS.About half of MDS patients harbor somatic mutations in spliceosome genes with SF3B1 be-ing the most commonly mutated one.MDS with SF3B1 mutation has been identified as a distinct subtype accord-ing to 5thedition of the World Health Organization(WHO)classification for MDS.Patients with SF3B1 mutations are commonly associated with ineffective erythropoiesis and increased ringed sideroblasts(RS).Mutations in SF3B1 may lead to abnormal recognition of the pre-mRNA 3'splice site by the spliceosome and result in aberrant mRNA.SF3B1 mutations are likely to be the early events of MDS,and patients with SF3B1 mutations have a lower risk of transformation to leukemia and better prognosis.Considering SF3B1 mutations and related genetic changes contributes to prognosis and therapy for patients with MDS.This review mainly focuses on the molecular mechanisms of SF3B1 mutations and their role in the prognosis and therapy of the disease.
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