骨髓增生异常综合征研究进展

Research progress of myelodysplastic syndrome

骨髓增生异常综合征(myelodysplasticsyndromes,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(refractorycytopeniawithunilineagedysplasia,RCUD)中各亚型,MDS-U(MDS-unclassified,MDS-U)和MDS-RCMD(MDS-refractorycytopeniawithmultilineagedysplasia,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。

Approximately 85% of bone marrow cells were clonal in the myelodysplastic syndrome regardless of the myelo blast 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 develop ment 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 In dex were useful prognostic systems. Early ESAs（erythropiesis stimilating agents,ESAs）failure（resistance or relapse 6months）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.