Myelodysplastic Syndromes Center, Columbia University Medical Center, Milstein Hospital Building, 6N-435, 177 Fort Washington Avenue, New York, New York 10032, USA.
Nat Rev Cancer. 2012 Dec;12(12):849-59. doi: 10.1038/nrc3321.
Myelodysplastic syndromes (MDS) are malignant clonal disorders of haematopoietic stem cells and their microenvironment, affecting older individuals (median age ∼70 years). Unique features that are associated with MDS - but which are not necessarily present in every patient with MDS - include excessive apoptosis in maturing clonal cells, a pro-inflammatory bone marrow microenvironment, specific chromosomal abnormalities, abnormal ribosomal protein biogenesis, the presence of uniparental disomy, and mutations affecting genes involved in proliferation, methylation and epigenetic modifications. Although emerging insights establish an association between molecular abnormalities and the phenotypic heterogeneity of MDS, their origin and progression remain enigmatic.
骨髓增生异常综合征（MDS）是造血干细胞及其微环境的恶性克隆性疾病，影响老年人（中位年龄约 70 岁）。与 MDS 相关的独特特征 - 但并非每个 MDS 患者都一定存在 - 包括成熟克隆细胞中过度凋亡、促炎骨髓微环境、特定染色体异常、核糖体蛋白生物发生异常、单亲二体性存在以及影响增殖、甲基化和表观遗传修饰的基因的突变。尽管新出现的见解确立了分子异常与 MDS 表型异质性之间的关联，但它们的起源和进展仍然是个谜。
