We describe 1000 patients with essential thrombocythemia seen at the Mayo Clinic between 1967 and 2023: median age 58 years (18–90), females 63%, JAK2/CALR/MPL-mutated 62%/27%/3%, triple-negative (TN) 8%, extreme thrombocytosis (ExT; platelets ≥1000 × 109/L) 26%, leukocytosis (leukocyte count >11 × 109/L) 20%, and abnormal karyotype 6%. JAK2-mutated patients were older (median 71 years), and CALR mutated (52 years), and TN (50 years) younger (p < 0.01). Female gender clustered with TN (73%) and JAK2 (69%) vs. CALR/MPL (49%/47%) mutations (p < 0.01). ExT clustered with CALR (type-2 more than type-1) and TN and leukocytosis with JAK2 mutation (p < 0.01). In multivariable analysis, risk factors for overall survival were older age (p < 0.01), male gender (HR 1.8), absolute neutrophil count (ANC) ≥ 8 × 109/L (HR 1.6), absolute lymphocyte count (ALC) < 1.7 × 109/L (HR 1.5), hypertension (HR 1.7), and arterial thrombosis history (HR 1.7); for leukemia-free survival, ExT (HR 2.3) and abnormal karyotype (HR 3.1); for myelofibrosis-free survival, ANC ≥ 8 × 109/L (HR 2.3) and MPL mutation (HR 3.9); for arterial thrombosis-free survival, age ≥60 years (HR 1.9), male gender (HR 1.6), arterial thrombosis history (HR 1.7), hypertension (HR 1.7), and JAK2 mutation (HR 1.8); for venous thrombosis-free survival, male gender (HR 1.8) and venous thrombosis history (HR 3.0). Associations between ExT and leukemic transformation and between ANC and fibrotic progression were limited to JAK2-mutated cases. Aspirin therapy appeared to mitigate both arterial (HR 0.4) and venous (HR 0.4) thrombosis risk. HR-based risk models delineated patients with median survivals ranging from 10 years to not reached and 20-year leukemia/myelofibrosis incidences from 3%/21% to 12.8%/49%. The current study provides both novel and confirmatory observations of essential thrombocythemia.
我们描述了1967年至2023年间在梅奥诊所就诊的1000例原发性血小板增多症患者：中位年龄58岁（18-90岁），女性占63%，JAK2/CALR/MPL突变分别为62%/27%/3%，三阴性（TN）占8%，极显著血小板增多（ExT；血小板≥1000×10⁹/升）占26%，白细胞增多（白细胞计数>11×10⁹/升）占20%，核型异常占6%。JAK2突变患者年龄较大（中位71岁），而CALR突变（52岁）和TN（50岁）患者较年轻（p<0.01）。女性患者多见于TN（73%）和JAK2（69%）突变组，而CALR/MPL（49%/47%）突变组比例较低（p<0.01）。ExT多见于CALR突变（2型多于1型）和TN患者，白细胞增多则与JAK2突变相关（p<0.01）。多变量分析显示，影响总生存期的风险因素包括年龄较大（p<0.01）、男性（HR 1.8）、中性粒细胞绝对值（ANC）≥8×10⁹/升（HR 1.6）、淋巴细胞绝对值（ALC）<1.7×10⁹/升（HR 1.5）、高血压（HR 1.7）和动脉血栓病史（HR 1.7）；影响无白血病生存期的风险因素为ExT（HR 2.3）和核型异常（HR 3.1）；影响无骨髓纤维化生存期的风险因素为ANC≥8×10⁹/升（HR 2.3）和MPL突变（HR 3.9）；影响无动脉血栓生存期的风险因素包括年龄≥60岁（HR 1.9）、男性（HR 1.6）、动脉血栓病史（HR 1.7）、高血压（HR 1.7）和JAK2突变（HR 1.8）；影响无静脉血栓生存期的风险因素为男性（HR 1.8）和静脉血栓病史（HR 3.0）。ExT与白血病转化之间的关联以及ANC与纤维化进展之间的关联仅限于JAK2突变病例。阿司匹林治疗似乎能降低动脉（HR 0.4）和静脉（HR 0.4）血栓风险。基于HR的风险模型显示，患者中位生存期从10年至未达到不等，20年白血病/骨髓纤维化发生率从3%/21%至12.8%/49%不等。本研究为原发性血小板增多症提供了新的发现和验证性观察结果。
One thousand patients with essential thrombocythemia: the Mayo Clinic experience
肿瘤(癌症)患者之家