CALR基因突变在骨髓增殖性肿瘤中的临床研究  

Clinical study of CALR gene mutation in myeloproliferative neoplasms

作　　者：王彦丽[1] 戚光祖[1] 郭洪娜[1] 接贵涛[1] 范美英[1] 

机构地区：[1]山东省临沂市沂水中心医院血液科,山东临沂276400

出　　处：《中国医药导报》2015年第26期86-89,共4页China Medical Herald

基　　金：山东省临沂市科技发展计划(201515028)

摘　　要：目的：探讨经典的断裂点簇集区/Abelson白血病病毒（BCR/ABL）融合基因阴性骨髓增殖性肿（MPN）患者中钙网蛋白（CALR）基因突变的发生率,分析CALR基因突变阳性MPN的临床特点。方法依据2008年WHO造血组织和淋巴组织肿瘤分类标准对2012年1月-2015年3月在临沂市沂水中心医院就诊的72例临床初诊为“MPN”患者进行诊断时采用直接测序法检测CALR基因突变,采用等位基因特异性聚合酶链反应（AS-PCR）检测JAK2V617F突变。分析CALR基因突变阳性MPN的临床表现及实验室检查特点。结果在22例真性红细胞增多症（PV）患者中16例携带有JAK2V617F突变（突变率为68%）,未检测出CALR基因突变；26例原发性血小板增多症（ET）患者中12例携带有JAK2V617F突变（突变率为46%）,8例检测出CALR基因突变（突变率为31%）,JAK2V617F突变阴性患者中CALR基因突变率为57豫（8/14）；23例原发性骨髓纤维化（PMF）患者中11例携带有JAK2V617F基因突变（突变率为49%）,8例检测出CALR基因突变（突变率为35%）,JAK2V617突变阴性患者中CALR基因突变为为67%（8/12）。72例患者中均未检测到MPL515突变。结论 CALR基因突变是JAK2V617突变阴性的MPN特异性分子标志物。将CALR基因突变检测纳入MPN诊断标准可以提高诊断的准确性减少漏诊率。Objective To observe the CALR mutations in patients withmyeloproliferative meoplasm （MPN） and analyzes The clinical features of CALR mutation positive MPN. Methods From March 2012 to January 2015, in Yishui Central Hospital, 72 patients newly diagnosed ＂MPN＂, according to the tumor classification criteria of WHO （2008）, were se-lected, and they were diagnosed through CALR mutations tested by sequenced and JAK2 V617F tested by allele specif-ic （AS）-PCR. The clinical manifestations and laboratory characteristics of CALR mutation positive MPN were analyzed. Results Among 22 PV patients, 16 cases were with JAK2V617F mutations （mutation rate was 68%）, no CALR mutation was detected;among 26 ET patients, 12 cases were with JAK2V617F mutations （mutation rate was 46%）, 8 cases were with CARL mutations （mutation rate was 31%）, CARL mutation rate in JAK2V617F negative mutations patient was 57% （8/14）; among 23 PMF patients, 11 cases were with JAK2V617F mutations （mutation rate was 49%）, 8 cases were with CARL mutations （mutation rate was 35%）, CARL mutation rate in JAK2V617F negative mutations patient was 67% （8/12）. MPL515 mutations were not detected in all 72 patients. Conclusion CALR mutations is the specific molecular marker of JAK2V617F mutation MPN, detection CALR mutations in the MPN diagnostic criteria can improve the diagnostic accuracy and reduce the missed diagnosis rate.

关 键 词：骨髓增殖性肿瘤 CALR基因 JAK2基因 突变 

分 类 号：R551.3[医药卫生—血液循环系统疾病]