伴CEP110-FGFR1融合基因阳性的8p11骨髓增殖综合征一例  

8pll myeloproliferative syndrome with CEPllO-FGFR1 fusion in a patient

作　　者：晁红颖[1] 陈苏宁[1] 周民[2] 卢绪章[2] 张修文[2] 潘金兰[1] 吴春晓[1] 张日[1] 

机构地区：[1]江苏省苏州大学附属第一医院血液科、江苏省血液研究所、卫生部血栓与止血实验室,215006 [2]南京医科大学附属常州市第二人民医院血液科

出　　处：《中华医学遗传学杂志》2015年第5期679-682,共4页Chinese Journal of Medical Genetics

摘　　要：目的探讨1例罕见的CEP110-FGFR1融合基因阳性的8p11骨髓增殖综合征（myeloproliferativesyndrome，EMS）的临床及实验室特征。方法综合应用骨髓细胞学检查、荧光原位杂交、融合基因检测等方法对患者进行检查。结果患者的临床特征主要为外周血白细胞计数明显升高、髓系高度增生、单核细胞增多及病态造血等。实验发现其8号染色体短臂受累。荧光原位杂交显示FGFR1基因重排。RT—PCR证实其为CEP110-FGFR1融合基因阳性。结论伴CEP110-FGFR1阳性的EMS患者具有独特的临床及实验室特征。细胞遗传学及分子生物学检查有助于早期诊断。Objective To explore the clinical and laboratory features of a patient with 8pll myeloproliferative syndrome （ EMS ） and CEP1 IO-FGFR1 fusion. Methods Combined hone marrow cytology, fluorescence in situ hybridization, fusion gene detection was used to analyze the patient. Results Clinically, the patient had many features similar to those with chronic myelomonocytie leukemia, which included hyperleukocytosis, marked eosinophilia, monocytosis, myeloid hyperplasia and hyperplasia. Fluorescence in situ hybridization analysis for FGFR1 gene rearrangement was positive. Further study of the mRNA also confirmed an in-frame fusion between exon 38 of the CEP110 gene and exon 9 of FGFR1 gene. Conclusion EMS with CEPllO-FGFR1 fusion is a very rare and distinct myeloproliferative neoplasm. FISH and molecular studies may improve its diagnosis.

关 键 词：8p11骨髓增殖综合征 FGFR1基因重排 t(8 9)(p12 q34)易位 

分 类 号：R733.710.4[医药卫生—肿瘤]