Department of Experimental and Clinical Medicine, University of Florence; and Azienda Ospedaliera-Universitaria Careggi, Florence, Italy.
Blood. 2014 Mar 6;123(10):1552-5. doi: 10.1182/blood-2013-11-538983. Epub 2013 Dec 26.
Mutations in the calreticulin (CALR) gene were recently discovered in patients with essential thrombocythemia (ET) lacking the JAK2V617F and MPLW515 mutations, but no information is available on the clinical correlates. In this series, CALR mutations were found in 15.5% of 576 World Health Organization-defined ET patients, accounting for 48.9% of JAK2 and MPL wild-type (wt) patients. CALR-mutated patients were preferentially male and showed higher platelet count and lower hemoglobin and leukocyte count compared with JAK2- and MPL-mutated patients. Patients carrying the CALR mutation had a lower risk of thrombosis than JAK2- and MPL-mutated patients; of interest, their risk was superimposable to patients who were wt for the above mutations. CALR mutation had no impact on survival or transformation to post-ET myelofibrosis. Genotyping for CALR mutations represents a novel useful tool for establishing a clonal myeloproliferative disorder in JAK2 and MPL wt patients with thrombocytosis and may have prognostic and therapeutic relevance.
CALR 基因突变最近在缺乏 JAK2V617F 和 MPLW515 突变的原发性血小板增多症 (ET) 患者中被发现，但目前尚无关于其临床相关性的信息。在本系列中，CALR 基因突变在 576 名世界卫生组织 (WHO) 定义的 ET 患者中占 15.5%，占 JAK2 和 MPL 野生型 (wt) 患者的 48.9%。CALR 突变患者更倾向于男性，与 JAK2 和 MPL 突变患者相比，其血小板计数更高，血红蛋白和白细胞计数更低。与 JAK2 和 MPL 突变患者相比，携带 CALR 突变的患者发生血栓的风险较低；有趣的是，他们的风险与上述突变 wt 的患者相似。CALR 突变对生存或向 ET 后骨髓纤维化的转化没有影响。CALR 基因突变的基因分型是在血小板增多的 JAK2 和 MPL wt 患者中建立克隆性骨髓增生性疾病的一种新的有用工具，可能具有预后和治疗相关性。
