潜匿性真性红细胞增多症与真性红细胞增多症鉴别诊断

目的：对比分析潜匿性真性红细胞增多症（mPV）和真性红细胞增多症（PV）的特点，探讨mPV 早期诊断的方法。方法收集符合诊断标准的男性初诊 PV、mPV 患者各100例，均行促红细胞生成素（EPO）、中性粒细胞碱性磷酸酶（NAP）、 JAK2 V617F 基因检测及骨髓组织活组织检查（BMB）。半年后追踪未经特殊治疗两组患者的血红蛋白（Hb）及 JAK2 V617F 基因突变负荷量变化情况。结果PV 组与 mPV 组 EPO 分别为（3.4±0.7）、（3.2±0.6） U／ml，NAP 积分分别为（276±20）、（278±21）分， BMB 造血容积分别为（78±10）%、（76±9）%，巨核细胞数分别为（53±6）、（51±5）个／张切片，差异均无统计学意义（均 P＞0.05）。 JAK2 V617F 基因突变负荷量分别为（89.2±9.4）%、（78.1±8.6）%，差异有统计学意义（P＜0.05）。 mPV 组中未经特殊治疗的半年后达 PV 水平（Hb≥185 g／L）的37例患者 Hb 平均水平为（194±8）g／L，JAK2 V617F 负荷量为（90.7±9.1）%。结论 PV、mPV 患者的 EPO、NAP 积分及骨髓组织形态学无差异，而 JAK2 V617F 基因突变负荷量有差异。未经特殊治疗的 mPV 患者 Hb 水平半年后多数可达到典型 PV 的诊断水平，JAK2 V617F 基因突变负荷量随之增加。

Differential diagnosis of masked polycythemia vera and polycythemia vera

Objective To explore the method for early diagnosis of masked polycythemia vera (mPV) by comparing and analyzing the features of mPV and polycythemia vera (PV). Methods A total of 200 newly diagnosed male patients were collected based on diagnostic criteria, including 100 cases of PV and 100 cases of mPV. Erythropoietin (EPO), neutrophil alkaline phosphatase (NAP) score, bone marrow biopsy (BMB), and JAK2 V617F mutation were evaluated in all cases. After 6 months, hemoglobin (Hb) and JAK2 V617F mutation load were detected in patients without special treatment in two groups during follow-up. Results EPO, NAP score, BMB hematopoietic volume and the number of megakaryocyte had no statistical differences between PV group and mPV group (3.4 ± 0.7) U/ml vs. (3.2±0.6) U/ml, (276±20) score vs. (278±21) score, (78±10) % vs. (76±9) %, (53±6) vs. (51±5), respectively], while JAK2 V617F mutation load in PV group was higher than that in mPV group(89.2±9.4) % vs. (78.1±8.6) %, P<0.05]. In mPV patients without special treatment, Hb ≥185 g/L was found in 37 patients after 6 months, and the level of Hb and JAK2 V617F mutation load in these 37 patients reached (194±8) g/L and (90.7±9.1) %, respectively. Conclusions There is no significant difference in EPO, NAP score and BMB between PV and mPV, but the JAK2 V617F mutation load is different. In mPV patients without special treatment, Hb level can reach the typical PV diagnostic criteria after 6 months, meanwhile, JAK2 V617F mutation load is also increased.