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首页> 外文期刊>Journal of Korean medical science >JAK2 V617F, MPL, and CALR Mutations in Korean Patients with Essential Thrombocythemia and Primary Myelofibrosis
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JAK2 V617F, MPL, and CALR Mutations in Korean Patients with Essential Thrombocythemia and Primary Myelofibrosis

机译：在患有原发性血小板增多症和原发性骨髓纤维化的韩国患者中，JAK2 V617F，MPL和CALR突变

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摘要

Mutations in the calreticulin gene, CALR, have recently been discovered in subsets of patients with essential thrombocythemia (ET) or primary myelofibrosis (PMF). We investigated Korean patients with ET and PMF to determine the prevalence, and clinical and laboratory correlations of CALR/JAK2/MPL mutations. Among 84 ET patients, CALR mutations were detected in 23 (27.4%) and were associated with higher platelet counts (P=0.006) and lower leukocyte counts (P=0.035) than the JAK2 V617F mutation. Among 50 PMF patients, CALR mutations were detected in 11 (22.0%) and were also associated with higher platelet counts (P=0.035) and trended to a lower rate of cytogenetic abnormalities (P=0.059) than the JAK2 V617F mutation. By multivariate analysis, triple-negative status was associated with shorter overall survival (HR, 7.0; 95% CI, 1.6-31.1, P=0.01) and leukemia-free survival (HR, 6.3; 95% CI, 1.8-22.0, P=0.004) in patients with PMF. The type 1 mutation was the most common (61.1%) type among all patients with CALR mutations, and tended toward statistical predominance in PMF patients. All 3 mutations were mutually exclusive and were never detected in patients with other myeloid neoplasms showing thrombocytosis. CALR mutations characterize a distinct group of Korean ET and PMF patients. Triple-negative PMF patients in particular have an unfavorable prognosis, which supports the idea that triple-negative PMF is a molecularly high-risk disease.
机译：最近在具有原发性血小板增多症（ET）或原发性骨髓纤维化（PMF）的患者亚群中发现了钙网蛋白基因CALR的突变。我们调查了韩国的ET和PMF患者，以确定其发生率以及CALR / JAK2 / MPL突变的临床和实验室相关性。在84名ET患者中，与JAK2 V617F突变相比，在23例中检出了CALR突变（占27.4％），与较高的血小板计数（P = 0.006）和较低的白细胞计数（P = 0.035）相关。在50例PMF患者中，有11例（22.0％）检测到了CALR突变，并且与JAK2 V617F突变相比，血小板计数更高（P = 0.035），并且细胞遗传异常率也更低（P = 0.059）。通过多变量分析，三阴性状态与总体生存期较短（HR，7.0; 95％CI，1.6-31.1，P = 0.01）和无白血病生存期（HR，6.3; 95％CI，1.8-22.0，P）相关= 0.004）在PMF患者中。 1型突变是所有CALR突变患者中最常见的类型（61.1％），在PMF患者中倾向于统计学上的优势。所有这三个突变都是互斥的，在其他具有血小板增多症的骨髓瘤患者中从未发现过。 CALR突变是一组韩国ET和PMF患者的特征。特别是三阴性PMF患者的预后不良，这支持了三阴性PMF是分子高危疾病的观点。

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