71例真性红细胞增多症分析

摘要

The aim of this study was to analyse the clinical characteristics and laboratory data,treatment and prognosis of polycythemia vera (PV).A retrospective study was performed for 71 PV patients treated in our hospital during January 2001 to July 2011 including analysis of clinical characteristics,laboratory data,myelogram chronosome karyotypes,BCR/ABL and JAK2V617F genes,as well as lactate dehydrogenase(LDH) and neuron-specific enolase(NSE) levels in serum and so on.The results showed that 71 patients (37 males and 34 females with a average age of 57.8years) were diagnosed.Thrombosis and embolism occurred in 34 patients(47.89％ ),hemorrhage in 10 patients ( 14.08％ ),splenomegaly occurred in 44 patients.The onset of the disease was insidious,13 patients( 18.31％ ) were found to have PV during the treatments for other diseases.The average hemoglobin at diagnosis was 206.31 ( 171 -242 )g/L.JAK2V617F mutation was detected in 31 (81.58％) of 38 patients studied.The average levels of serum LDH and NSE were higher than normal and both positively correlated with hemoglobin(P =0.007,P =0.005 ).The disease outcomes were myelofibrosis for 3 patients,death from cerebral hemorrhage for 1 patient,and death from ineffective chemotherapy in 1 patient with ANLL-M2.It is concluded that PV is a chronic myeloproliferative disorder characterized predominately by thrombosis and hemorrhage.The serum LDH and NSE levels are higher than the normal values.It is inferred that the serum LDH and NSE levels can reflect the degree of malignant proliferation of bone marrow hematopoietic cells and also can be used as an indicator to judge the therapeutic effect of PV.%本研究分析真性红细胞增多症(PV)的临床特点、实验室检查结果、治疗及预后.对2001年1月至2011年7月在本院住院的71例(男性37例,女性34例,平均发病年龄57.8岁)PV患者的临床特点、染色体核型检查、BCR/ABL和JAK2V617F基因检查、血清乳酸脱氢酶(LDH)和神经元特异性烯醇酶(NSE)水平检测等方面进行了回顾性分析.结果表明,71例中血栓形成、栓塞34例(47.89％),出血10例(14.08％),脾大44例(61.97％),肝大12例(16.90％),起病隐匿,诊治其他疾病时发现者占18.31％,初诊时平均血红蛋白206.31 g/L.67例PV患者染色体核型检查显示4例(5.97％)染色体核型异常.38例患者JAK2V617F基因检查显示31例JAK2V617F基因阳性(81.58％).血清LDH与NSE平均水平高于正常值,且均与血红蛋白呈正相关(P=0.007,P=0.005).3例进展为骨髓纤维化,1例脑出血死亡,1例患者转化为ANLL-M2,经化疗无效后死亡.结论:PV是以血栓及出血为主要并发症的骨髓增殖性肿瘤,起病隐匿,血清LDH与NSE水平高于正常值,推断血清LDH与NSE水平可反映PV患者骨髓造血细胞的恶性增殖程度并可作为判定PV的疗效指标之一.