CAJ | 학술논문

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、ASXLI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.
골수증생이상종합정(MDS)시일조골수세포분화장애적극륭성이원성악성혈액질병.삼여조직공능조절적기인(EAH2、ASXLI급UTX)화재MDS중불단돌변적DNA갑기화(DNMT3A、IDH1/IDH2、TET2)재해질병적유전학급표관유전학중간기중요적교량작용.AZA-001전연연구재사용DNA갑기전이매(DNMT)억제제방면제공료중요경험.통과아찰포감적치료개선료고풍험MDS환자심지시국제공작조정의적혈액학반응환자적생존상태.DNMT억제제대면역계통급간세포적영향가능개벽료저사약물재치료MDS화기타혈액급비혈액악성종류중적신용도.면역조절제사리도알급기연생물래나도알이피용우치료MDS,주요용우저위MDS.
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 methylation (DNMT3A,IDH 1/IDH2,TET2) are recurrently mutated in MDS,providing an important link between genetic and epigenetic alterations in this disease. Ongoing analysis of the seminal AZA-001study 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.