伴ETO或CBFβ阳性的急性髓细胞白血病患者c-kit基因突变的检测及意义  

Detection of c-kit mutations in acute myeloid leukemia patients with ETO or CBFβ positive and its clinical significance

作　　者：符爽 胡延平[1] 陈芳[1] 张男[1] 刘璇[1] 张旻昱[1] 傅煜[1] 王孝会[1] 张继红[1] 

机构地区：[1]中国医科大学附属盛京医院血液研究室,辽宁沈阳110022

出　　处：《现代肿瘤医学》2015年第11期1581-1584,共4页Journal of Modern Oncology

基　　金：国家青年科学基金项目(编号:81300420)

摘　　要：目的:探讨伴AML1-ETO或CBFβ-MYH11阳性的急性髓细胞白血病(acute myeloid leukemia,AML)患者c-kit基因突变情况及其临床意义。方法:采用PCR结合测序的方法,对38例伴AML1-ETO或CBFβ-MYH11阳性的急性髓细胞白血病患者骨髓中c-kit外显子17的突变情况进行检测,并与患者的临床资料、实验室特征及预后的相关性进行综合分析。结果:38例患者中12例检测到c-kit外显子17突变,突变率为31.6%,其中7例为D816V突变,5例为N822K突变,两种突变类型患者的临床资料无显著差异(P>0.05),突变组骨髓原始细胞比例明显高于野生组(P<0.05),突变组与野生组患者的年龄、性别、WBC、RBC、PLT和HGB比例无明显差异(P>0.05)。c-kit突变组和野生组化疗后完全缓解率和复发率无统计学差异(P>0.05),但c-kit突变组的死亡率显著高于野生组(P<0.05)。结论:AML1-ETO或CBFβ阳性的AML患者c-kit D816V和N822K突变常见,突变患者预后差,骨髓原始细胞比例较高,c-kit基因突变检测对患者的治疗和预后有重要意义。-ETO or CBFβ-MYH11 positive and its clinical significance. Methods：We detected the c-kit exon 17 mutations in 38 cases of AML patients with AML1-ETO or CBFβ-MYH11 positive by PCR amplification and DNA sequen-cing methods,and analyzed the correlation between c-kit mutations and its clinical characteristics,laboratorial exam-inations or prognosis. Results：C-kit mutations were found in 12 of 38 AML patients and the mutation frequency was 31.6%.Among the patients,seven had a D816V-type and five had a N822K -type mutations,which had no significant differences in patientsˊclinical characteristics（p﹥0. 05）. The proportion of bone marrow blasts in mutated group was higher than those in widetype group. No significant difference was observed between the patients with and without c -kit mutations in the age,gender,the WBC,RBC and PLT counts,and HGB levels（p﹥0. 05）. There was no obvious difference between c-kit mutated and widetype groups in complete remission rate and relapse rate（ p﹥0. 05）. However,the mortality of c-kit mutated group was higher than that of widetype group（p﹤0. 05）. Conclu/sion：The D816V and N822K c-kit mutations is common in AML patients with AML1 -ETO or CBFβ-MYH11 positive who have a poor prognosis and higher bone marrow blasts proportion. The c-kit mutation detection is very important to evaluate the patientˊs prognosis and select suitable therapy.

关 键 词：急性髓细胞白血病 AML1-ETO CBFβ-MYH11 C-KIT 基因突变 

分 类 号：R733.71[医药卫生—肿瘤]