Senecal Justin Bruni, Madan Yasmine, Tahir Rabia, Rajkumar Sabina, Lim Wendy, Crowther Mark, Mithoowani Siraj
Department of Medicine, McMaster University, Hamilton, ON L8S 4L8, Canada.
Health Sciences Program, McMaster University, Hamilton, ON L8S 4L8, Canada.
J Clin Med. 2025 Jul 22;14(15):5173. doi: 10.3390/jcm14155173.
: Erythrocytosis is a common laboratory abnormality affecting approximately 4% of males and 0.4% of females. The JAKPOT score was recently developed to differentiate primary from secondary erythrocytosis without molecular testing. JAKPOT+ patients meet any of the following criteria: erythrocytes > 6.45 × 1012/L, platelets > 350 × 109/L, or neutrophils > 6.2 × 109/L. We aimed to validate this score and identify predictors of JAK2-positive erythrocytosis in a retrospective cohort. : We identified 213 patients (50 female, mean age 57 years) with undifferentiated erythrocytosis, serum erythropoietin (EPO) and JAK2 molecular testing (V617F or exon 12) at a tertiary care center in Hamilton, Canada, between 2017 and 2022. Charts were manually reviewed for laboratory data, comorbidities, demographics, and medications. We evaluated the diagnostic accuracy of EPO, JAKPOT, and a combination of low EPO and JAKPOT (EPO-JAKPOT) for predicting JAK2 mutant erythrocytosis. Multivariate logistic regression analysis was performed to detect predictors of JAK2 mutant erythrocytosis. : Forty patients (19%) had JAK2 mutations. Older age ( < 0.01), higher platelet count ( < 0.01), and lower EPO ( < 0.01) were associated with JAK2 mutant erythrocytosis in a multivariate analysis. JAKPOT+ status had a sensitivity of 0.88 (95% CI, 0.73-0.94). Combining low EPO or JAKPOT+ status into a new score (EPO-JAKPOT) increased sensitivity to 0.95 (95% CI, 0.83-0.98). Restricting JAK2 testing to only EPO-JAKPOT+ patients would have led to 55% fewer molecular tests in our cohort. : The EPO-JAKPOT score shows promise in excluding JAK2 mutant erythrocytosis without molecular testing, but further prospective validation is warranted.
红细胞增多症是一种常见的实验室异常情况，约4%的男性和0.4%的女性受其影响。JAKPOT评分最近被开发出来，用于在不进行分子检测的情况下区分原发性和继发性红细胞增多症。JAKPOT+患者符合以下任何一项标准：红细胞>6.45×10¹²/L、血小板>350×10⁹/L或中性粒细胞>6.2×10⁹/L。我们旨在验证该评分，并在一项回顾性队列研究中确定JAK2阳性红细胞增多症的预测因素。
我们在加拿大汉密尔顿的一家三级医疗中心，确定了213例（50例女性，平均年龄57岁）患有未分化红细胞增多症的患者，对其进行血清促红细胞生成素（EPO）和JAK2分子检测（V617F或第12外显子），时间跨度为2017年至2022年。人工查阅病历以获取实验室数据、合并症、人口统计学信息和用药情况。我们评估了EPO、JAKPOT以及低EPO与JAKPOT联合（EPO-JAKPOT）对预测JAK2突变型红细胞增多症的诊断准确性。进行多变量逻辑回归分析以检测JAK2突变型红细胞增多症的预测因素。
40例患者（19%）存在JAK2突变。在多变量分析中，年龄较大（<0.01）、血小板计数较高（<0.01）和EPO较低（<0.01）与JAK2突变型红细胞增多症相关。JAKPOT+状态的敏感性为0.88（95%CI，0.73 - 0.94）。将低EPO或JAKPOT+状态纳入一个新的评分（EPO-JAKPOT）可将敏感性提高到0.95（95%CI，0.83 - 0.98）。仅对EPO-JAKPOT+患者进行JAK2检测，会使我们队列中的分子检测减少55%。
EPO-JAKPOT评分在不进行分子检测的情况下排除JAK2突变型红细胞增多症方面显示出前景，但需要进一步的前瞻性验证。
