Gau Jyh-Pyng, Chen Chih-Cheng, Chou Yi-Sheng, Liu Chia-Jen, Yu Yuan-Bin, Hsiao Liang-Tsai, Liu Jin-Hwang, Hsu Hui-Chi, Chiou Tzeon-Jye, Chen Po-Min, Tzeng Cheng-Hwai
Division of Hematology and Oncology, Department of Medicine, Taipei Veterans General Hospital, Taipei, Taiwan; National Yang-Ming University School of Medicine, Taipei, Taiwan.
Division of Hematology and Oncology, Department of Medicine, Chang Gung Memorial Hospital, Chiayi, Taiwan; Graduate Institute of Clinical Medical Sciences, Chang Gung University, Tao-Yuan, Taiwan.
Blood Cells Mol Dis. 2015 Jun;55(1):36-9. doi: 10.1016/j.bcmd.2015.03.009. Epub 2015 Mar 30.
The true frequency of the JAK2 46/1 haplotype in patients of myeloproliferative neoplasms (MPN) with CALR mutations was unknown. Totally 187 MPN cases with diagnosis of polycythemia vera (PV) and essential thrombocythemia (ET) were recruited. The frequency of 46/1 haplotype was significantly higher in JAK2V617F-positive PV (51%, p < 0.001) and ET (41%, p = 0.005) compared to normal controls. The exact location of JAK2V617F mutation was located at the cis-46/1 haplotype in 86.4% (32/37) PV patients and 87.5% (28/32) ET patients, respectively. Among the 51 patients of ET without JAK2V617F mutation, 38 (75%) patients harbored CALR mutations and 3 patients had MPL mutation. The frequency of 46/1 haplotype in the 38 ET patients with CALR mutations was 27%, which is not significantly different from that of normal control (p value = 0.879). Compared to non-46/1 haplotype, the presence of 46/1 haplotype had a trend to have higher white blood cell count in JAK2V617F-mutated PV and ET patients but not in CALR-mutated ET. We conclude that the 46/1 haplotype could have functioning effect but only in the context of JAK2V617F mutation.
伴有CALR突变的骨髓增殖性肿瘤（MPN）患者中JAK2 46/1单倍型的真实频率尚不清楚。共招募了187例诊断为真性红细胞增多症（PV）和原发性血小板增多症（ET）的MPN病例。与正常对照相比，JAK2V617F阳性的PV患者（51%，p<0.001）和ET患者（41%，p = 0.005）中46/1单倍型的频率显著更高。JAK2V617F突变的确切位置分别位于86.4%（32/37）的PV患者和87.5%（28/32）的ET患者的顺式46/1单倍型上。在51例无JAK2V617F突变的ET患者中，38例（75%）患者存在CALR突变，3例患者存在MPL突变。38例伴有CALR突变的ET患者中46/1单倍型的频率为27%，与正常对照无显著差异（p值 = 0.879）。与非46/1单倍型相比，46/1单倍型的存在使JAK2V617F突变的PV和ET患者白细胞计数有升高趋势，但在CALR突变的ET患者中无此现象。我们得出结论，46/1单倍型可能具有功能效应，但仅在JAK2V617F突变的背景下。
