8p11骨髓增殖综合征1例并文献回顾  

8p11 myeloproliferative syndrome: A case report and review of the literature

作　　者：肖方[1] 陈任安[1] 王文清[1] 黄斯勇[1] 严学倩[1] 王萌[1] 王颖[1] 刘利[1] 

机构地区：[1]第四军医大学唐都医院血液内科,陕西西安710038

出　　处：《现代肿瘤医学》2015年第17期2498-2500,共3页Journal of Modern Oncology

摘　　要：8p11骨髓增殖综合征(8p11 myeloproliferative syndrome,EMS)是一组以白细胞计数明显增高、髓系细胞增生、嗜酸性粒细胞增多、淋巴瘤为特征的临床综合征。分子生物学定义是定位于8号染色体短臂(8p11-12)上的成纤维细胞生长因子受体1(fibroblast growth factor receptor 1,FGFR1)基因与伙伴基因易位或插入而产生的侵袭性肿瘤。2008年WHO将本病定义为髓系、淋系肿瘤伴有成纤维细胞生长因子受体1异常。目前共发现14种与FGFR1重排相关的伙伴基因,其中最常见的是位于13q11-12上的ZNF198。EMS预后差,患者常在短期内迅速进展为急性髓系白血病,目前只有异基因造血干细胞移植能有效控制该病。现报告我科诊断的1例EMS病例,并就其分子生物学特征、发病机制和治疗等的研究现状进行讨论。The 8pl 1 myeloproliferative syndrome （EMS） is a rare disease, characterrized by peripheral blood leuco- cytosis, myeloid hyperplasia of bone marrow, eosinophilia, and T/B - cell lymphoblastic leukemia/lymphoma. EMS is defined by molecular disruption of the FGFR1 gene at 8pl 1 - 12 chromosome locus, and various partner genes are as- sociated with FGFR1 gene transloeation or insertion. The 2008 WHO Classification of Tumor Haematopoietic and Lymphiod Tisses Designated EMS an ＂ myeloid and lymphoid neoplasms with FGFR1 abnormalities＂. Up to now, 14 partner genes have been identified and associated with FGFR1 rearrangements. The most common partner is ZNF198 on chromosome 13ql 1 -12. EMS is an aggressive disease that can rapidly transform into acute myeloid leukemia. Currently, the only curative option appears to be allogeneic hematopoietic stem cell transplantation. Here we report a ease of EMS and relative references were reviewed.

关 键 词：8p11骨髓增殖综合征 成纤维细胞生长因子受体1 病例报告 

分 类 号：R739.42[医药卫生—肿瘤]