基因突变检测在骨髓增生异常综合征诊疗中的应用

骨髓增生异常综合征 （MDS） 是一种由遗传学异常驱动的克隆性造血干细胞或祖细胞性疾病， 通常表现为全血细胞减少、 病态造血及向白血病转化的高风险。细胞形态学和细胞遗传学异常是目前确立MDS诊断的主要参数。近年来， 随着基因测序技术， 尤其是二代测序技术的快速发展和广泛应用， 大多数MDS患者可检出基因突变。本文就基因突变在MDS诊断、 分型、 危险度分层和治疗中的应用作一评述。

The clinical significance of gene mutation detection in myelodysplastic syndromes

Myelodysplastic syndrome (MDS), a clonal disease that arises from the expansion of mutated hematopoietic stem cells or hematopoietic progenitor cells, is usually characterized by a clinically and biologically heterogeneous group of disorders associated with cytopenias, ineffective hematopoiesis, and a tendency to evolve into acute myeloid leukemia. Currently, the diagnosis of MDS relies mainly on the morphologic and cytogenetic abnormalities. With the advance of the next generation sequencing, genetic mutations have been identified in majority of MDS patients. Here we briefly review the clinical significance of genetic mutations in the diagnosis, classification, risk stratification and treatment of MDS.