基因突变对造血干细胞移植后MDS患者预后评估作用的研究进展

Research Progress on Role of Gene Mutations in Prognostic Evaluation of Patients with Myelodysplastic Syndrome after Stem-Cell Transplantation——Review

骨髓增生异常综合征(MDS)是一组起源于造血干细胞,以血细胞病态造血,高风险向急性髓系白血病转化为特征的难治性血细胞质、量异常的异质性疾病。造血干细胞移植是治愈该病的唯一方法,但是其复发及相关并发症所致的移植失败率很高。高通量测序技术的发展较全面地揭示了MDS的基因突变谱系,发现80%以上的MDS患者至少伴有1种基因突变,且突变基因类型与MDS患者的临床表型及预后关系密切。本文就MDS相关突变基因、突变基因对MDS患者的预后及突变对移植后患者预后的影响等研究最新进展进行综述,以便更好地建立相关预测模型及指导治疗。

Myelodysplastic syndromes (MDS) represent a clonal hematopoietic stem cell disorder characterized by morphologic features of dyspoiesis,high risk of transformation from MDS into AML. Allogeneic hematopoietic stem-cell transplantation is the only curative therapy for MDS,but the failure rate of transplantation is still high,which attribute to relapsed disease and transplant-related complications. Recently,the spectrum of gene abnormalities in MDS has been revealed by next generation genomic sequencing techniques. It was found that more than 80% MDS patients have at least one gene mutation. Mutated genes in MDS are powerfully associated with clinical phenotype and prognosis. In this review,the recent advancements regarding recurrent gene mutations in MDS are briefly summarized,and the prognostic values of gene mutations are discussed in MDS or after allogeneic hematopoietic stem-cell transplantation,so as to set up a predicting model and to guide the treatment.