Passamonti Francesco, Caramazza Domenica, Mora Barbara, Casalone Rosario, Maffioli Margherita
Division of Hematology, Department of Internal Medicine, University Hospital Ospedale di Circolo e Fondazione Macchi, Varese, Italy.
Genetic Unit, Medical Genetic and Cytogenetics Laboratory, SSD, SMEL, University Hospital Ospedale di Circolo e Fondazione Macchi, Varese, Italy.
Best Pract Res Clin Haematol. 2014 Jun;27(2):121-7. doi: 10.1016/j.beha.2014.07.005. Epub 2014 Jul 18.
Polycythemia vera (PV) and essential thrombocythemia (ET) are myeloproliferative neoplasms to be diagnosed according to the WHO classification. Molecular profiling must include the analysis of JAK2 (looking for the V617F point-mutation in PV and ET, screening exon 12 for mutations only in V617F-negative PV), CALR and MPL mutations (both in V617F-negative ET). The current risk stratification to predict thrombosis requires two parameters: age over 60 years and prior history of thrombosis. On the basis of these two risk factors patients can be stratified in low-risk and high-risk and receive a proper treatment. However, a modern stratification of thrombotic risk might consider "new" low-risk patients: conventional low-risk plus absence of leukocytosis from diagnosis onwards and a hematocrit level below 45% during the course of disease for PV; conventional low-risk plus absence of leukocytosis from diagnosis onwards, JAK2 negativity, CALR positivity, and absence of cardiovascular risk factors for ET.
真性红细胞增多症(PV)和原发性血小板增多症(ET)是根据世界卫生组织分类进行诊断的骨髓增殖性肿瘤。分子分析必须包括对JAK2的分析(在PV和ET中寻找V617F点突变,仅在V617F阴性的PV中筛查外显子12的突变)、CALR和MPL突变(两者均在V617F阴性的ET中)。目前预测血栓形成的风险分层需要两个参数:60岁以上的年龄和既往血栓形成史。基于这两个风险因素,患者可分为低风险和高风险,并接受适当的治疗。然而,现代的血栓形成风险分层可能会考虑“新的”低风险患者:对于PV,传统低风险加上从诊断开始无白细胞增多以及疾病过程中血细胞比容水平低于45%;对于ET,传统低风险加上从诊断开始无白细胞增多、JAK2阴性、CALR阳性以及无心血管危险因素。