费城阴性骨髓增生性肿瘤 (Ph-MPN) 是一种克隆性疾病，其发病机制近年来已被阐明，并创建了诊断和预后算法。研究 Ph-MPN 患者的 JAK2、CALR y MPL 基因突变。描述性横断面观察研究MPN 患者（2015-2019 年），审查临床、人口统计和实验室数据。通过 RT-PCR 分析 JAK2、CALR 和 MPL 基因突变。我们研究了 72 名患者。 50% 患有原发性血小板增多症 (ET)，26.4% 患有真性红细胞增多症 (PV)，23.6% 患有原发性骨髓纤维化 (PM)。 76.5% 的患者可进行骨髓活检。诊断时，平均年龄为 65.5 岁，61% 有症状。血栓事件是 20% 的最常见问题，25% 的人患有脾肿大。不同MPN之间的血液学参数存在统计学上的显着差异。 61.1% 检测到 JAK2 V617F 突变。只有 19 名 JAK2 V617F 阴性患者可用于 CALR 和 MPL 突变研究，确定了 10 名三阴性病例。 Kaplan Meier 曲线显示，三个 MPN 的中位生存期为 88 个月，相似。 20 名患者的死亡原因为血栓并发症（30%）、疾病进展（25%）、感染（20%）、其他肿瘤（15%）和其他原因（10%）。我们的 JAK2 V617F、CALR 和 MPL 突变的表现和频率队列与其他 ET 和 PM 研究报告的队列相似。 JAK2 V617F 突变对于 PV 较低。三种 MPN 之间的总生存期没有观察到显着差异。我们无法评估突变的预后价值。

Philadelphia negative myeloproliferative neoplasms (Ph-MPN) are clonal disorders whose pathogenesis has been elucidated in recent years, creating diagnostic and prognostic algorithms.To study JAK2, CALR y MPL gene mutations in patients with Ph-MPN.Descriptive cross-sectional observational study of patients with MPN (2015-2019), reviewing clinical, demographic and laboratory data. JAK2, CALR and MPL gene mutations were analyzed by RT-PCR.We studied 72 patients. Fifty percent had essential thrombocythemia (ET), 26.4% had polycythemia vera (PV) and 23.6% had primary myelofibrosis (PM). Bone marrow biopsy was available in 76.5%. At diagnosis, the mean age was 65.5 years and 61% were symptomatic. A thrombotic event was the most frequent problem in 20% and 25% had splenomegaly. There were statistically significant differences in hematological parameters between the different MPNs. JAK2 V617F mutation was detected in 61.1%. Only 19 JAK2 V617F negative patients were available for CALR and MPL mutation studies, identifying 10 triple negative cases. Kaplan Meier curves showed a median survival of 88 months, being similar in the three MPNs. Causes of death in 20 patients were thrombotic complications in 30%, disease progression in 25%, infection in 20%, other neoplasms in 15% and other causes in 10%.The presentation and frequency of JAK2 V617F, CALR and MPL mutations in our cohort was similar to those reported in other studies for ET and PM. JAK2 V617F mutation was lower for PV. No significant differences between the three MPNs were observed for overall survival. We could not assess the prognostic value of the mutations.