真性红细胞增多症70例临床特点及疗效分析  

Clinical analysis of 70 cases of polycythemia vera

作　　者：任悦[1] 付蓉[1] 瞿文[1] 阮二宝[1] 王晓明[1] 王国锦[1] 吴玉红[1] 刘鸿[1] 宋嘉[1] 关晶[1] 邢莉民[1] 李丽娟[1] 王化泉[1] 邵宗鸿[1] 

机构地区：[1]天津医科大学总医院血液科,300052

出　　处：《中华医学杂志》2015年第18期1378-1381,共4页National Medical Journal of China

摘　　要：目的 分析真性红细胞增多症（PV）患者的临床特点、实验室检查、治疗及预后,为筛选高危人群、寻找防治并发症的措施提供依据.方法 选取2005年5月至2014年5月天津医科大学总医院血液科确诊的70例PV患者为研究对象,其中男43例,女27例,平均发病年龄（56.6±13.1）岁.对患者的临床特点、BCR/ABL及JAK2 V617F基因检查、染色体核型检查、碱性磷酸酶（ALP）、血清乳酸脱氢酶（LDH）水平等方面的检测进行回顾性分析.结果 70例PV患者中起病时有症状者42例（60.00％）,合并血栓形成、栓塞25例（35.71％）,出血3例（4.29％）,脾大48例（68.57％）,肝大7例（10.00％）.初诊时平均血红蛋白195.17 g/L,白细胞10.12×109/L,血小板295×109/L.70例患者中染色体核型检查均未发现核型异常,JAK2 V617F基因点突变检测阳性率87.69％ （57/65）.3例进展为骨髓纤维化（MF）（4.29％）;1例先进展为MF后转化为双表型急性白血病,化疗无效死亡.2例患者心肺功能衰竭死亡.血细胞压积（HCT） ＞60％的PV患者更容易发生血栓.JAK2 V617F突变阳性组血清促红细胞生成素（EPO）水平明显低于突变阴性组,突变阳性组血红蛋白水平及血小板水平均显著高于阴性组（均P＜0.05）.结论 JAK2V617F突变在PV患者中发生率高,对PV早期诊断具有重要的临床意义。Objective To analyze the clinical characteristics and laboratory data,treatment and prognosis of polycythemia vera （PV） and provide evidence for screening of high-risk population and looking for measures to reduce complecations.Methods A retrospective study was performed among 70 patients with PV from May 2005 to May 2014,43 males and 27 females,aged （56.6 ± 13.1） to collect the data about characteristics,laboratory data,myelogram chromosome,karyotypes,BCR/ABL and JAK2 V617F genes,as well as lactate dehydrogenase （LDH） and so on.Results At diagnosis,there were 42 cases （60.00%） had symptoms,25 cases（35.71%）had thrombosis and embolism.Hemorrhage occurred in 3 cases （4.29%）,splenomegaly in 48 cases （68.57%）,hepatomegaly in 7 cases （10.00%）.The average hemoglobin at diagnosis was 195.17 g/L,the white blood cells count was 10.12 × 109/L,the platelet count was 295 × 109/L.The chromosome karyotypes were all normal.The positive percentage of JAK2 V617F mutation was 87.69% （57/65）.The disease outcomes were myelofibrosis for 3 paitents,death from ineffective treatment after transforming to myelofibrosis and then biphenotype acute leukemia for 1 patient,and death from cardiorespiratory failure for 2 patients.The level of erythropoietin in JAK2 V617F mutated group were significantly lower than those in wild-type JAK2 V617F group （P 〈 0.05）.The level of hemoglobin and platelet counts in JAK2 V617F mutated group were significantly higher than those in wild-type JAK2 V617F group（both P 〈 0.05） Conclusion PV is one of meyloproliferation neoplasm,characterized by abnormally increasing blood cells,thrombosis and transforming to other myeloproliferative neoplasms.

关 键 词：红细胞增多症 真性 血栓形成 栓塞 基因 JAK2 V617F 

分 类 号：R555.1[医药卫生—血液循环系统疾病]