真性红细胞增多症常用诊断标准比较

真性红细胞增多症常用诊断标准比较

张旻昱;胡延平;陈芳;张男;王韫秀;崔丽芬;张振忠;姜若腾;李月明;张继红

【摘要】目的：本文描述了3种真性红细胞增多症诊断标准：国内诊断标准、WHO2008年诊断标准和BCSH诊断标准，并比较3种诊断标准的敏感性及特异性。

方法：通过统计50例近期在中国医科大学附属盛京医院就诊的以红细胞增多为主要临床表现的病例自就诊以来相关信息，根据病史及临床疗效将患者分组，将此结果与3种诊断标准得出的结果进行对比。

结果：在纳入分析范围的45例患者中，将35例诊断为PV，其余10例为继发性红细胞增多。将国内诊断标准、WHO诊断标准及BCSH诊断标准分别与临床诊断结果对比，得到3种诊断标准的敏感性分别为51.43%、85.71%和91.43%，特异性分别为100%、70%和90%。

结论：JAK2V617F基因突变在PV诊断中有重要地位。在JAK2V617F基因突变阴性的情况下，BCSH诊断标准较为精准；而当JAK2V617F基因突变阳性时，单纯依靠BCSH诊断标准会造成敏感性降低，需要WHO诊断标准作为补充。

【关键词】真性红细胞增多症;诊断标准;WHO;BCSH

【中图分类号】R555.1

[Abstract]Objective:Three sets of diagnostic criteria for polycythaemia vera (PV): the National diagnostic criteria,the British Committee for Standards in Haematology (BCSH) criteria and the World Health Organisation(WHO) criteria(2008) have been described.We compared the ability of each set of criteria to accurately diagnose PV and differentiate it from secondary erythrocytosis. Methods:The clinical database was drawn from erythrocytosis patients currently attending the Shengjing Hospital of China Medical University and the relevant information from the time of diagnosis for each patient was assessed according to each set of criteria.

Result:Sufficient data was available on 45 patients: 35 PV and 10 secondary erythrocytosis according to the clinical diagnosis. The National diagnostic criteria classified only 18 of 35 patients(51.43%) as PV because of its rigidity.The WHO criteria had a sensitivity of 85.71% for classifying PV,while the BCSH criteria had an acceptable level of 91.43%. For secondary erythrocytosis, the specificity of the National diagnostic criteria, the WHO criteria and the BCSH criteria are 100%,70% and 90% respectively.

Conclusion:We concluded that the Janus kinase 2 (JAK2)V617F mutation was a significant factor in the diagnosis of PV,and two different diagnostic criterias should be taken on the basis of JAK2V617F mutation.The BCSH criteria were the most accurate diagnostic criteria for PV in the negative cases,yet the WHO criteria was a complementary to the BCSH criteria to differentiate between PV and other erythrocytoses when the JAK2V617F was positive.

真性红细胞增多症(Polycythaemia Vera,PV)被描述为无明确刺激因素作用下的骨髓红、粒及巨核谱系细胞克隆性增殖异常，其中以克隆性红细胞增多为主要特征，属于骨髓增殖性疾病(MPD)的一种[1]。其群体发生率为0.5~3.5/10万人口，诊断时年龄中位数约60岁，并以男性为多(1.6:1)[2]。

1976年，Louis Wasserman等人成立了PVSG(Polycythaemia Vera Study Group)[3]，并首次提出PV诊断条件[4] (表1)，以区别PV及继发性红细胞增多。可以看出，PVSG诊断条件很大程度上依赖红细胞容量(Red Cell Mass,RCM)测定。而由于RCM测定本身不够准确，已不被临床广泛使用，这使这种诊断标准需要被修订[2]。

近40年间，PV的发病机制被广泛研究，主要突出了细胞的克隆性遗传学标志、体外培养有内源性红细胞集落形成和血清Epo水平下降这三个方面，多种诊断标准也随之提出并强调了发病机制的重要性。例如，1996年由BSCH (British Committee for Standards in Haematology)提出的诊断标