伴CEP110-FGFR1融合基因阳性的8p11骨髓增殖综合征一例
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics（2015）
Abstract
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(myeloproliferative syndrome,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.
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Key words
8p11 myeloproliferative syndrome,FGFR1 gene rearrangement,t(8,9) (p12,q34)translocation
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