8p11骨髓增殖综合征研究进展

Research progress of 8p11 myeloproliferative syndrome

8p11骨髓增殖综合征(8p11 myeloproliferative syndrome,EMS)分子学特征为染色体8号短臂(8p11)上的成纤维细胞生长因子受体1(fibroblast growth factor receptor 1,FGFR1)与伙伴基因融合并伴FGFR1激酶组成性激活。EMS临床表现多样,侵袭性强,多快速进展为急性白血病,目前只有异基因造血干细胞移植(HSCT)能有效控制该病。迄今为止,已鉴定出FGFR1的伙伴基因有18种。现就EMS的分子生物学特征、发病和进展机制、临床表现和治疗等的研究进展作一综述。

The molecular hallmarks of 8p11 myeloproliferative syndrome(EMS)are the fusion of fibroblast growth factor receptor 1(FGFR1)and various partner genes,which result in the creation of chimeric protein with constitutive activation of the FGFR1 tyrosine kinase.The clinical manifestations of EMS are diverse and aggressive,and most of them rapidly progress to acute leukemia.At present,only allogeneic hematopoietic stem cell transplantation(HSCT)can effectively control the disease.To date,18 partner genes of FGFR1 have been identified.This article reviews the molecular biological characteristics,pathogenesis and progression mechanism,clinical manifestations and treatment of EMS.