CAJ | 학술논문

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。
목적：탐토경전적단렬점족집구/Abelson백혈병병독(BCR/ABL)융합기인음성골수증식성종(MPN)환자중개망단백(CALR)기인돌변적발생솔,분석CALR기인돌변양성MPN적림상특점。방법의거2008년WHO조혈조직화림파조직종류분류표준대2012년1월~2015년3월재림기시기수중심의원취진적72례림상초진위“MPN”환자진행진단시채용직접측서법검측CALR기인돌변,채용등위기인특이성취합매련반응(AS-PCR)검측JAK2V617F돌변。분석CALR기인돌변양성MPN적림상표현급실험실검사특점。결과재22례진성홍세포증다증(PV)환자중16례휴대유JAK2V617F돌변(돌변솔위68%),미검측출CALR기인돌변；26례원발성혈소판증다증(ET)환자중12례휴대유JAK2V617F돌변(돌변솔위46%),8례검측출CALR기인돌변(돌변솔위31%),JAK2V617F돌변음성환자중CALR기인돌변솔위57예(8/14)；23례원발성골수섬유화(PMF)환자중11례휴대유JAK2V617F기인돌변(돌변솔위49%),8례검측출CALR기인돌변(돌변솔위35%),JAK2V617돌변음성환자중CALR기인돌변위위67%(8/12)。72례환자중균미검측도MPL515돌변。결론 CALR기인돌변시JAK2V617돌변음성적MPN특이성분자표지물。장CALR기인돌변검측납입MPN진단표준가이제고진단적준학성감소루진솔。
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.