School of Medicine, Instituto Tecnológico y de Estudios Superiores de Monterrey, Monterrey, Mexico.
Division of Cancer Medicine, The University of Texas MD Anderson Cancer Center, Houston, TX.
Clin Lymphoma Myeloma Leuk. 2021 Apr;21(4):224-229. doi: 10.1016/j.clml.2020.11.002. Epub 2020 Nov 5.
Considering the evolving diagnostic criteria of polycythemia vera (PV), we analyzed the utility of serum erythropoietin (EPO) as a predictive marker for differentiating polycythemia vera (PV) from other etiologies of erythrocytosis.
We conducted a retrospective study after a review of electronical medical records from January 2005 to December 2016 with diagnosis of erythrocytosis using International Classification of Disease-specific codes. To evaluate the diagnostic performance of EPO levels and JAK2-V617F mutation, we constructed a receiver-operated characteristic curve of sensitivity versus 1-specificity for serum EPO levels and JAK2-V617F mutation as predictive markers for differentiating PV from other causes of erythrocytosis.
We surveyed 577 patients with erythrocytosis. Median patient age was 59.2 years, 57.72% (n = 329) were male, 86.3% (n = 491) were white, and only 3.3% (n = 19) were African American. A total of 80.88% (n = 351) of those diagnosed with PV had a JAK2-V617F mutation compared to only 1.47% (n = 2) whose primary diagnosis was secondary polycythemia. When comparing JAK2-V617 mutation to the EPO level, the area under the curve of JAK2-V617 (0.8970) was statistically larger than that of EPO test (0.6765). Therefore, the PV diagnostic methodology using JAK2-V617 is better than the EPO test. An EPO level of < 2 mIU/mL was > 99% specific to predict PV but was only 12% sensitive.
In the appropriate clinical setting, cytogenetic and molecular studies such as JAK2 mutation status prevail as the most useful tools for PV case identification. The use of isolated EPO to screen patients with erythrocytosis is not a good diagnostic approach.
考虑到真性红细胞增多症（PV）的诊断标准不断演变，我们分析了血清促红细胞生成素（EPO）作为区分真性红细胞增多症（PV）与其他红细胞增多症病因的预测标志物的效用。
我们对 2005 年 1 月至 2016 年 12 月期间使用国际疾病分类特定代码诊断为红细胞增多症的电子病历进行回顾性研究。为了评估 EPO 水平和 JAK2-V617F 突变的诊断性能，我们构建了血清 EPO 水平和 JAK2-V617F 突变作为区分 PV 与其他红细胞增多症病因的预测标志物的敏感性与 1 特异性的受试者工作特征曲线。
我们调查了 577 例红细胞增多症患者。中位患者年龄为 59.2 岁，57.72%（n=329）为男性，86.3%（n=491）为白人，只有 3.3%（n=19）为非裔美国人。被诊断为 PV 的患者中，80.88%（n=351）有 JAK2-V617F 突变，而原发性诊断为继发性红细胞增多症的患者只有 1.47%（n=2）。将 JAK2-V617 突变与 EPO 水平进行比较时，JAK2-V617 的曲线下面积（0.8970）明显大于 EPO 试验（0.6765）。因此，使用 JAK2-V617 的 PV 诊断方法优于 EPO 试验。EPO 水平<2 mIU/mL 对预测 PV 的特异性>99%，但敏感性仅为 12%。
在适当的临床环境下，细胞遗传学和分子研究，如 JAK2 突变状态，作为识别 PV 病例的最有用工具占主导地位。使用孤立的 EPO 筛选红细胞增多症患者不是一种好的诊断方法。
