骨髓增生异常综合征表观遗传学与靶向治疗:第56届美国血液学会年会报道

骨髓增生异常综合征(MDS)为克隆性疾病,其特征为无效性造血,骨髓中造血细胞发育异常,不能产生足够的分化正常的成熟细胞,以致外周血血细胞减少.MDS发病随年龄的增长而增加,提示遗传性或表观遗传性改变的积累使造血干细胞发生DNA突变,癌基因活化或抑癌基因受抑,增加无限性自我增殖能力,进而导致克隆性造血而发病.约30％的MDS转化为急性髓系白血病(AML),常对细胞毒药物不敏感,而靶向药物有望改善其预后.

Epigenetics and targeted therapy in myelodysplastic syndrome: reports from the 56th American Society of Hematology annual meeting

The myelodysplastic syndrome (MDS) is a clonal disorder characterized by inefficient haematopoiesis,dysplasia of hematopoietic cells in bone marrow and unable production of mature cells with normal differentiation resulting in peripheral cytopenias.The incidence of MDS is increased with the increasing age,suggesting that the accumulation of genetic or epigenetic changes lead to DNA mutations in hematopoietic stem cell,activation of oncogenes and inactivation of tumor suppressor genes,increasing limitless self-proliferation,and eventually resulting in aberrant clonal hematopoiesis and the occurrence of MDS.About thirty percentage of patients with MDS will transform into acute myeloid leukemia (AML) at last.MDS is always not sensitive to cytotoxic drugs,but targeted drugs maybe help to improve the prognosis.