Gene mutation and myelodysplastic syndromes with ring sideroblast excess / 中国实验血液学杂志

ABSTRACT

Myelodysplastic syndromes (MDS) are heterogeneous clonal hematopoietic stem cell disorders with different mechanisms and diverse prognosis. The excess of ring sideroblasts (RS) is an important presentation MDS, but the mechanisms of RS appearance are obscure and the treatment of MDS-RS is intractable. Splicing factors play a very important role in the maturation process of eucaryon mRNA, recent studies indicate that there is a significant causal relationship between splicing factor 3B subunit 1 (SF3B1) mutation and the presence of ring sideroblasts. Lucubrating the downstream molecular of the mutated SF3B1 can facilitate exploring the mechanisms and new therapeutic strategies of MDS-RS.