5q-综合征发病机制及治疗研究进展

The pathogenesis and treatment of 5q- syndrome

5号染色体长臂缺失综合征（5q－综合征）是一种造血干细胞疾病，是一种常见类型的骨髓增生异常综合征（MDS），存在于10％～20％的MDS患者中。发病机制为5号染色体长臂缺失，导致部分调节造血基因单倍体功能不足。目前，雷那度胺是最为有效的治疗措施之一，但部分患者疗效不显著。本文综述近年来5q－综合征发病机制及治疗相关进展。

Chromosome 5q deletion syndrome （Sq - syndrome）, a hematopoietic stem cells disease is a common type of myelodysplastic syndrome （MDS）, which exist in approximately 10% -20% of MDS patients. The pathogenesis of 5q - syndrome is the loss of chromosome 5 which leads to the lack of haploid function of hematopoietic genes. Lenalidomide is one of the most effective agent to treat 5q - syndrome, but some patients are not be well treated. This paper reviewed the pathogenesis and treatment of 5q- syndrome in recent years.