8p11骨髓增殖综合征的研究现状  

8p11 Myeloproliferative Syndrome——Review

作　　者：李锋[1] 翟勇平[1] 

机构地区：[1]南京军区南京总医院血液科,江苏南京210002

出　　处：《中国实验血液学杂志》2013年第4期1073-1077,共5页Journal of Experimental Hematology

摘　　要：8p11骨髓增殖综合征(8p11 myeloproliferative syndrome,EMS)是与定位于髓系和淋巴系细胞8号染色体短臂(8p11)的成纤维细胞生长因子受体1(FGFR1)基因易位相关的侵袭性肿瘤。EMS以外周血白细胞计数明显增高、骨髓中髓系增生、嗜酸细胞增多和淋巴母细胞淋巴瘤/白血病为特征。EMS短期内将进展为急性白血病。EMS预后差,目前只有异基因造血干细胞移植能有效控制该病。在分子水平,所有病例均涉及8p11的FGFR1基因易位,新融合蛋白通过诱导FGFR1基因二聚体化,组成性激活酪氨酸激酶活性,导致细胞增殖及恶性转化。迄今,已鉴定出的与FGFR1形成融合蛋白的伙伴基因有14例(包括13例易位与1例插入),现就其分子生物学特征、发病机制和治疗等的研究现状作一综述。The 8p11 myeloproliferative syndrome（EMS） is named as stem cell leukemia/lymphoma syndrome,and is an aggressive neoplasm associated with chromosomal translocations involving the fibroblast growth factor receptor 1（FGFR1） tyrosine kinase gene on chromosome 8p11-12.EMS is a syndrome characterized by peripheral blood leucocytosis with eosinophilia,myeloid hyperplasia of bone marrow,and T-cell lymphoblastic leukemia/lymphoma.Clinically,EMS is an aggressive disease with a short chronic phase before rapid transformation into acute leukemia.Its prognosis is poor.The only curative option for patients with EMS at this time appears to be bone marrow or stem cell transplantation.At the molecular level,all cases carry a chromosomal abnormality involving the FGFR1 gene at chromosome 8p11.The novel chimeric proteins foster dimerization and ligand-independent activation of FGFR1 tyrosine kinase,subsequently promoting activation of downstream pathways involved in proliferation and malignant transformation of cells.Currently,13 translocations and 1 insertion have been identified.Here,the current review mainly focuses on molecular genetic features,pathogenic mechanisms and therapy of EMS.

关 键 词：8p11骨髓增殖综合征 干细胞白血病 淋巴瘤综合征 骨髓增殖性肿瘤 成纤维细胞生长因子受体1t(8 13)(p11 q12) 

分 类 号：R551.3[医药卫生—血液循环系统疾病]