骨髓增生异常综合征的研究进展:2011年美国血液学会年会报道

骨髓增生异常综合征（MDS）是一组骨髓细胞分化障碍的克隆性异源性恶性血液疾病。参与组织功能调节的基因（EAH2、ASXL1及UTX）和在MDS中不断突变的DNA甲基化（DNMT3A、IDH1／IDH2、TET2）在该疾病的遗传学及表观遗传学中间起重要的桥梁作用。AZA-001前沿研究在使用DNA甲基转移酶（DNMT）抑制剂方面提供了重要经验。通过阿扎胞苷的治疗改善了高风险MDS患者甚至是国际工作组定义的血液学反应患者的生存状态。DNMT抑制剂对免疫系统及干细胞的影响可能开辟了这些药物在治疗MDS和其他血液及非血液恶性肿瘤中的新用途。免疫调节剂沙利度胺及其衍生物来那度胺已被用于治疗MDS，主要用于低危MDS。

Research progress on myelodysplastic syndromes:report of the 2011 annual meeting of American Society of Hematology

Myelodysplastic syndromes （MDS） are a heterogenous group of hematologic malignancies characterized by clonal expansion of BM myeloid cells with impaired differentiation. Of particular interest mutations is the recent recognition that genes involved in the regulation of histone function （EZH2, ASXL1, and UTX） and DNA mcthylation （DNMT3A, IDH1/IDH2, TET2） are reemTently mutated in MDS, providing an important link between genetic and epigenetic alterations in this disease. Ongoing analysis of the seminal AZA-001 study has taught many important lessons in the use of DNA methyltransferase （DNMT） inhibitors. Improved survival in patients with high-risk MDS treated with azacitidine extends to patients with any International Working Group-defined hematologic response. New information on the impact of DNMT inhibitors on the immune system and on stem cells will likely lead to novel uses of these drugs in MDS and other hematologic and nonhematologic malignancies. The immunomodulating drug thalidomide and its derivative lenalidomide have been used in the treatment of MDS, principally in lower-risk MDS.