Li Feng, Zhai Yong-Ping
Department of Hematology, Nanjing General Hospital, Nanjing Military Area, Nanjing 210002, Jiangsu Province, China.
Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2013 Aug;21(4):1073-7. doi: 10.7534/j.issn.1009-2137.2013.04.050.
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.
8p11骨髓增殖综合征（EMS）又称为干细胞白血病/淋巴瘤综合征，是一种侵袭性肿瘤，与涉及8号染色体p11-12区域成纤维细胞生长因子受体1（FGFR1）酪氨酸激酶基因的染色体易位有关。EMS的特征为外周血白细胞增多伴嗜酸性粒细胞增多、骨髓髓系增生以及T细胞淋巴母细胞白血病/淋巴瘤。临床上，EMS是一种侵袭性疾病，慢性期短，随后迅速转化为急性白血病，预后较差。目前，EMS患者唯一的治愈选择似乎是骨髓或干细胞移植。在分子水平上，所有病例均存在涉及8号染色体p11区域FGFR1基因的染色体异常。新型嵌合蛋白促进FGFR1酪氨酸激酶的二聚化和非配体依赖性激活，随后促进参与细胞增殖和恶性转化的下游途径的激活。目前，已鉴定出13种易位和1种插入。本文综述主要聚焦于EMS的分子遗传学特征、致病机制及治疗。
