CALR vs JAK2 vs MPL-mutated or triple-negative myelofibrosis: clinical, cytogenetic and molecular comparisons
CALR vs JAK2 vs MPL-mutated or triple-negative myelofibrosis: clinical, cytogenetic and molecular comparisons
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DOI：
10.1038/leu.2014.3
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发表时间：
2014-07-01
期刊：
影响因子：
11.4
通讯作者：
Pardanani, A.
中科院分区：
文献类型：
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作者：
Tefferi, A.;Lasho, T. L.;Pardanani, A.
最近在JAK 2和MPL未突变的原发性骨髓纤维化（PMF）和原发性血小板增多症中描述了钙网蛋白（CALR）突变。在目前的研究中，我们比较了有或没有CALR，JAK 2或MPL突变的PMF患者的临床，细胞遗传学和分子特征。在254例研究患者中，147例（58%）携带JAK 2，63例（25%）CALR和21例（8.3%）MPL突变; 22例（8.7%）患者对所有三种突变均呈阴性，而1例患者同时表达JAK 2和CALR突变。研究患者还筛查了ASXL 1（31%），EZH 2（6%），IDH（4%），SRSF 2（12%），SF 3B 1（7%）和U2 AF 1（16%）突变。在单因素分析中，CALR基因突变与年龄相关（P
Calreticulin (CALR) mutations were recently described in JAK2 and MPL unmutated primary myelofibrosis (PMF) and essential thrombocythemia. In the current study, we compared the clinical, cytogenetic and molecular features of patients with PMF with or without CALR, JAK2 or MPL mutations. Among 254 study patients, 147 (58%) harbored JAK2, 63 (25%) CALR and 21(8.3%) MPL mutations; 22 (8.7%) patients were negative for all three mutations, whereas one patient expressed both JAK2 and CALR mutations. Study patients were also screened for ASXL1 (31%), EZH2 (6%), IDH (4%), SRSF2 (12%), SF3B1 (7%) and U2AF1 (16%) mutations. In univariate analysis, CALR mutations were associated with younger age (P