骨髓增生异常综合征相关基因研究进展

Research progress of genes associated with myelodysplastic syndrome

骨髓增生异常综合征（MDS）是一组起源于造血干细胞的异质性髓系克隆性疾病,主要表现为外周血细胞减少,病态造血和高风险向急性髓系白血病（AML）转化。80%以上的MDS患者都伴有相关基因突变,目前所知MDS中研究较多、较常见的基因突变主要有表观遗传基因（DNA甲基化基因和组蛋白修饰基因DNMT3A、TET2、IDH1/2、WT1、ASXL1、EZH2等）,RNA剪接基因（SF3B1、SRSF2、U2AF1和ZRSR、PRPF8等）,转录调节基因（RUNX1、TP53等）,信号转导基因（NRAS、KRAS、JAK2、CBL等）及其余相关基因。

Summary Myelodysplastic syndrome （MDS） is a cluster of heterogeneous clonal hematopoietic neoplasm which is manifested by peripheral cytopenias,lineage dysplasia,and a substantial risk of progression to acute mye- loid leukemia （AML）. Approximately more than 80% of MDS patients have been shown to harbor gene muta- tions. The mutations have been found to be related to epigenetic alterations （including DNA methylation and his- tone modification TET2, DNMT3A, IDH1/2, WT1, EZH2 and ASXL1 ）, RNA splicing （SF3B1, SRSF2, U2AF1, ZRSR and PRPF8）, transcription regulation （ RUNXl, TP53 ）, signal transduction （ NRAS, KRAS, CBL, JAK2）. Recent advances in the molecular pathogenesis of MDS may contribute to the clinical diagnosis,risk stratification, prognostic assessment and therapeutic insights of this disease. This paper will review these genes involved in MDS patients.