Wojtaszewska Marzena, Iwoła Małgorzata, Lewandowski Krzysztof
Department of Hematology and Bone Marrow Transplantation, Poznań University of Medical Sciences, Poznań, Poland.
Acta Haematol. 2015;133(2):193-8. doi: 10.1159/000366263. Epub 2014 Oct 16.
In 2013, Nangalia et al. and Klampfl et al. found a recurrent and abundant mutation in the calreticulin gene (CALR), mutually exclusive with JAK2 and MPL alterations. At present, the data concerning the new mutation, i.e. its prevalence, allele burden and clinical significance, are scarce. We report the incidence and molecular characteristics of CALR mutations in a group of 184 Polish patients with myeloproliferative neoplasms (MPNs). Clinical data analysis revealed significant differences between JAK2 V617F-mutated and CALR-mutated groups. In essential thrombocythemia patients, hemoglobin levels and leukocyte counts were significantly higher in JAK2-positive than in CALR-positive patients (p = 0.023 and p = 0.017, respectively), but the CALR-positive patients had significantly higher platelet counts (p = 0.022). Patients harboring CALR mutations were also younger at the time of diagnosis (p = 0.039). In primary myelofibrosis patients, the degree of anemia was less severe in those who were CALR exon 9 mutation-positive than in those who were JAK2 V617F-positive (p = 0.048).
2013年，南加利阿等人以及克兰普夫尔等人在钙网蛋白基因（CALR）中发现了一种反复出现且丰富的突变，该突变与JAK2和MPL改变相互排斥。目前，关于这种新突变的数据，即其患病率、等位基因负担和临床意义，还很稀少。我们报告了184例波兰骨髓增殖性肿瘤（MPN）患者中CALR突变的发生率和分子特征。临床数据分析显示，JAK2 V617F突变组和CALR突变组之间存在显著差异。在原发性血小板增多症患者中，JAK2阳性患者的血红蛋白水平和白细胞计数显著高于CALR阳性患者（分别为p = 0.023和p = 0.017），但CALR阳性患者的血小板计数显著更高（p = 0.022）。携带CALR突变的患者在诊断时也更年轻（p = 0.039）。在原发性骨髓纤维化患者中，CALR外显子9突变阳性患者的贫血程度比JAK2 V617F阳性患者轻（p = 0.048）。
