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

摘要

-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.%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。