骨髓增生异常综合征研究进展

骨髓增生异常综合征(myelodysplastic syndromes，MDS)亚克隆在低危组就达到很高比例，驱动基因导致疾病进展。RNA剪接子复合物基因突变与MDS有较高相对特异性，并与疾病临床表现和预后相关。MDS的难治性血胞减少伴单系病态造血(refractory cytopenia with unilineage dysplasia,RCUD)中各亚型，MDS-U(MDS-unclassified，MDS-U)和MDS-RCMD(MDS-refractory cytopenia with multilineage dysplasia，MDS-RCMD)之间，病态造血、生存率和转白率无显著差异。IPSS的修订版和合并症指数更好地对MDS患者的预后和机体状态做出评价。规则去铁治疗可能改善MDS患者生活质量、生存期。促红细胞生成素早期失败者转白率和生存率均差。去甲化药物中阿扎胞苷可能疗效更佳。

Research progress of myelodysplastic syndrome.

Abstract：Approximately 85% of bone marrow cells were clonal in the myelodysplastic syndrome regardless of the myeloblast count.Driver gene cause subclone emerged.Genes involved in RNA splicing machinery were frequent ( 45 to 85%) in，and highly specific to myeloid neoplasms showing features of myelodysplasia.Overall survival and risk of AML development are similar in the subgroups of refractory cytopenia with unilineage dysplasia (RCUD)，MDS-RCMD(MDS-refractory cytopenia with multilineage dysplasia，MDS-RCMD) and MDS-U(MDS-unclassified，MDS-U).IPSS-R and Comorbidity Index were useful prognostic systems.Early ESAs ( erythropiesis-stimilating agents，ESAs) failure(resistance or relapse <6 months) is a marker of disease severity associated with frequent subsequent AML progression.Iron chelation therapy might improve survival，AML progression，transplant-related mortality of MDS.Azacitidine maybe more better for older patients with MDS.