骨髓增生异常综合征(MDS)是造血系统的恶性克隆性疾病,以病态造血及无效造血为主要表现,作为恶性克隆标记的细胞遗传学改变在MDS的诊断、治疗和预后评估中起着十分重要的作用。有研究认为,MDS发生往往是由于二次打击,即两个等位基因中一个由于遗传学异常导致缺失,另一个由于表观遗传学改变引起表达沉默。因此,遗传学的改变对于MDS的诊断、分型、预后和治疗有重要价值。 Myelodysplastic syndrome (MDS) is a malignant clonal disease of the hematopoietic system, mainly characterized by pathological hematopoiesis and ineffective hematopoiesis. Cytogenetic changes marked by malignant clones play an important role in the diagnosis, treatment and prognosis of MDS Role. Some studies suggest that MDS often occurs due to secondary shock, one of the two alleles due to genetic abnormalities caused by the deletion, the other due to epigenetic changes caused by the expression of silence. Therefore, genetic changes for the diagnosis of MDS, typing, prognosis and treatment of great value.