Essential thrombocythemia (ET) and prefibrotic primary myelofibrosis (prePMF) initially have a similar phenotypic presentation with thrombocytosis. The aim of our study was to determine significant clinical-laboratory parameters at presentation to differentiate prePMF from ET as well as to develop and validate a predictive diagnostic prePMF model. This retrospective study included 464 patients divided into ET (289 pts) and prePMF (175 pts) groups. The model was built using data from a development cohort (229 pts; 143 ET, 86 prePMF), which was then tested in an internal validation cohort (235 pts; 146 ET, 89 prePMF). The most important prePMF predictors in the multivariate logistic model were age ≥ 60 years (RR = 2.2), splenomegaly (RR = 13.2), and increased lactat-dehidrogenase (RR = 2.8). Risk scores were assigned according to derived relative risk (RR) for age ≥ 60 years (1 point), splenomegaly (2 points), and increased lactat-dehidrogenase (1 point). Positive predictive value (PPV) for pre-PMF diagnosis with a score of ≥points was 69.8%, while for a score of ≥3 it was 88.2%. Diagnostic performance had similar values in the validation cohort. In MPN patients with thrombocytosis at presentation, the application of the new model enables differentiation of pre-PMF from ET, which is clinically relevant considering that these diseases have different prognoses and treatments.
原发性血小板增多症（ET）与纤维化前期原发性骨髓纤维化（prePMF）在疾病初期均表现为血小板增多，具有相似的表型特征。本研究旨在明确初诊时能够区分prePMF与ET的关键临床-实验室参数，并构建及验证一种预测性诊断prePMF的模型。这项回顾性研究共纳入464例患者，分为ET组（289例）和prePMF组（175例）。模型基于开发队列（229例；143例ET，86例prePMF）的数据构建，随后在内部验证队列（235例；146例ET，89例prePMF）中进行测试。多因素逻辑回归模型显示，prePMF最重要的预测因素包括年龄≥60岁（相对风险RR=2.2）、脾肿大（RR=13.2）以及乳酸脱氢酶升高（RR=2.8）。根据所得相对风险分配风险评分：年龄≥60岁（1分）、脾肿大（2分）、乳酸脱氢酶升高（1分）。当评分≥2分时，诊断pre-PMF的阳性预测值（PPV）为69.8%；评分≥3分时，阳性预测值达88.2%。验证队列中该模型的诊断效能表现相似。对于初诊表现为血小板增多的骨髓增殖性肿瘤患者，应用这一新模型能够有效区分pre-PMF与ET，鉴于这两种疾病在预后和治疗方面存在差异，该模型具有重要的临床意义。
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