Ph阴性慢性骨髓增殖性肿瘤患者CALR基因突变及其临床意义探讨  

Clinical significance and CALR mutation profiles in patients with chronic Philadelphia chromosome-negative Myeloproliferative Neoplasms

作　　者：谢晓玲[1] Xie Xiaoling.(Department of Hematology, Huizhou City People ＇ s Hospital, Huizhou 516001 , Guangdong , China)

机构地区：[1]惠州市中心人民医院血液科,广东惠州516001

出　　处：《贵州医药》2018年第3期270-272,共3页Guizhou Medical Journal

摘　　要：目的探究Ph阴性慢性骨髓增殖性肿瘤(MPNs)患者CALR基因突变情况及其临床意义。方法对2012年1月至2015年1月间于我院确诊的97例慢性骨髓增殖性肿瘤患者进行回顾性分析,分析不同类型MPNs如真性红细胞增多症(PV)、原发性血小板增多症(ET)和原发性骨髓纤维化(PMF)患者的临床特点和基因突变情况,比较不同突变类型患者的血液学指标和预后。结果在纳入的患者中,JAK2突变的发生率最高(64.95%),其次为CALR突变(19.59%)和三阴性(10.31%),MPL突变的发生率最少(5.15%);ET和PMT患者各突变类型的发生率差异无统计学意义(P>0.05);PV患者未检出CALR基因突变。与JAK2突变患者相比,存在CALR突变患者的血红蛋白、白细胞和中性粒细胞水平较低,而血小板水平较高,差异有统计学意义(P<0.05);CALR突变患者与三阴性患者的血液学指标差异无统计学意义(P>0.05)。JAK2突变患者和CALR突变患者的疾病进展事件发生率47.62%和31.58%差异无统计学意义(P>0.05),CALR突变患者的疾病进展风险显著低于JAK2突变患者,差异有统计学意义(HR=0.46,95%CI[0.26,0.98],P<0.05)。结论不同基因突变的MPNs患者临床特点间存在差异;CALR突变的MPNs患者的预后好于JAK2突变。Objective To observe the clinical significance and CALR mutation profiles in patients with chronic Philadelphia chromosome-negative Myeloproliferative Neoplasms. Methods From January 2012 to January 2015, a retrospective analysis with clinical follow-up was done in 64 patients with chronic Myeloproliferative Neoplasms. The gene mutation profiles and clinical significance of MPNs subtypes, such as primary myetofibrosis （PMF）, essential thrombocythemia （ET） and polyeythemia vera （PV） were comparatively analyzed. The hematological features in dif- ferent gene mutation status were compared, and the Cox regression model was used to explorer the difference in prognosis. Results The JAK2 was the most frequent mutation （64. 95%） in 97 MPNs patients, and then was the CALR （19.59~//oo） and triple negative （10.31%） ,the MPL was detected in 5 patients （5.15%）. There were no statistical significantly differences in the frequency of JAK2 and CLAR gene mutations between ET and PMT patients （28.57% vs. 28.13% ,P〈0.05） ,but no CALR mutation was detected in PV patients. Patients carrying CALR mutations had higher platelet count and less presence of Hemoglobin, Leukocytes count and neutrophils than JAK2 （P〈0.05）. There were no statistical significantly differences in the hematological features between CALR and triple negative patients （P〈0.05）. The disease progression events in CALR and JAK2 mutation patients were 47. 62% and 31.58% （P〈0.05）. The risk of disease progression in CALR MPNs were obviously lower than JAK2 （HR= 0.46, %CI [-0.26,0.98] ,P〈0.05）. Conclusion The clinical significance differs among the MPN subtypes,the CALR mutation have a better prognosis than those in JAK mutation patients.

关 键 词：骨髓增殖性肿瘤 基因突变 CALR 临床特点 

分 类 号：R34[医药卫生—基础医学] R733.3