We describe 1000 patients with essential thrombocythemia seen at the Center Research and Innovation of Myeloproliferative Neoplasms (CRIMM), Florence, Italy, between 1980 and 2023: median age 59 years (18–95), females 65%, JAK2/CALR/MPL-mutated 66%/19%/4%, triple-negative (TN) 11%. Extreme thrombocytosis (ExT, platelets ≥1000 × 109/L) in 16%, leukocytosis (leukocytes >11 × 109/L) in 16%, and at least one cardiovascular risk factor in 52% of cases. JAK2-mutated patients were older (median 62 years) and CALR-mutated and TN (53 years for both) younger (p < 0.001). Female gender clustered with TN (76%) and JAK2 (67%) vs CALR (46%) mutations (p < 0.001). ExT clustered with CALR (type-2 more than type-1), TN and MPL, and leukocytosis with JAK2 mutation (p < 0.001). In multivariable analysis, risk factors for arterial thrombosis-free survival were age ≥60 years (HR 2.0; p < 0.001) and JAK2 mutation (HR 1.3; p = 0.02) with borderline significance for male gender (p = 0.08) and cardiovascular risk factors (p = 0.08); for venous thrombosis-free survival, JAK2 mutation (HR 1.9; p = 0.03) with borderline significance for venous thrombosis history (p = 0.07); for overall survival, older age (p < 0.001), male gender (HR 1.9; p < 0.001), absolute neutrophil count (ANC) ≥ 8 × 109/L (HR 1.8; p = 0.01), absolute lymphocyte count (ALC) < 1.7 × 109/L (HR 1.2; p = 0.03); for myelofibrosis-free survival, CALR mutation (HR 2.7; p < 0.001, particularly for CALR type 1/1-like, HR 3.3) and MPL mutation (HR 3.9; p = 0.001); for leukemia-free survival, older age (p = 0.03). Cytoreductive therapy appeared to mitigate both venous (HR 0.3; p = 0.01) and arterial thrombosis (HR 4; p = 0.04); there was a trend for aspirin in preventing arterial thrombosis recurrence. The current study provides real-world observations in essential thrombocythemia, representing a valid source document for interpreting current literature and planning future studies.
我们在意大利佛罗伦萨骨髓增殖性肿瘤研究与创新中心（CRIMM）描述了1980年至2023年间就诊的1000例原发性血小板增多症患者：中位年龄59岁（范围18-95岁），女性占65%，JAK2/CALR/MPL突变率分别为66%/19%/4%，三阴性（TN）占11%。其中16%出现极度血小板增多（ExT，血小板≥1000×10^9/L），16%存在白细胞增多（白细胞>11×10^9/L），52%的病例至少伴有一种心血管危险因素。JAK2突变患者年龄较大（中位62岁），而CALR突变与三阴性患者较年轻（均为53岁）（p<0.001）。女性患者多集中于三阴性（76%）和JAK2突变组（67%），CALR突变组女性比例较低（46%）（p<0.001）。极度血小板增多多见于CALR（2型多于1型）、三阴性及MPL突变组，白细胞增多则与JAK2突变相关（p<0.001）。
多变量分析显示，影响动脉血栓无事件生存的危险因素包括：年龄≥60岁（HR 2.0；p<0.001）和JAK2突变（HR 1.3；p=0.02），男性性别（p=0.08）和心血管危险因素（p=0.08）呈临界显著；影响静脉血栓无事件生存的因素为JAK2突变（HR 1.9；p=0.03），静脉血栓病史呈临界显著（p=0.07）；影响总生存的因素包括：高龄（p<0.001）、男性（HR 1.9；p<0.001）、中性粒细胞绝对值（ANC）≥8×10^9/L（HR 1.8；p=0.01）及淋巴细胞绝对值（ALC）<1.7×10^9/L（HR 1.2；p=0.03）；影响骨髓纤维化无事件生存的因素为CALR突变（HR 2.7；p<0.001，其中CALR 1/1-like型HR 3.3）和MPL突变（HR 3.9；p=0.001）；影响白血病无事件生存的因素为高龄（p=0.03）。
细胞减灭治疗似乎能降低静脉血栓（HR 0.3；p=0.01）和动脉血栓风险（HR 4；p=0.04）；阿司匹林在预防动脉血栓复发方面显示出趋势性作用。本研究提供了原发性血小板增多症的真实世界观察数据，为解读现有文献和规划未来研究提供了有效的源文件。
One thousand patients with essential thrombocythemia: the Florence-CRIMM experience
肿瘤(癌症)患者之家