骨髓增生异常综合征的遗传学研究进展

Research Progress of Genetics in Myelodysplastic Syndrome

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 hematopoietic malignant clonal disease with the main manifestation of dysplasia and ineffective hematopoiesis, play an important role as the malignant clone marked cytogenetie changes in MDS diagnosis, treatment and prognosis. Some studies consider that MDS often occurs due to two-hit,i, e. one of two alleles is missing due to genetic abnormalities, and the other is silenced due to epigenetic changes. Thus, genetic changes is of great value for MDS diagnosis, classification, prognosis and treatment.