摘要
目的:分析ASXL2基因突变与伴AML1-ETO融合基因的急性髓系白血病(AML)患者的临床特征、预后及C-KIT基因突变的关系。方法:收集并回顾性分析本院63例伴有AML1-ETO融合基因的初发AML患者的临床资料,根据PCR直接测序技术对患者ASXL2基因突变情况进行检测。比较ASXL2基因突变(A组)患者与无突变患者(B组)的临床特征、c-kit基因突变率及预后状况。结果:63例患者中,发生ASXL2基因突变8例(12.70%)。A组患者初诊时外周血血红蛋白水平较B组患者明显下降(P<0.01),2组性别、年龄、骨髓原始细胞比例、淋巴结肿大、外周血白细胞数和血小板数均无明显差异(P>0.05),且2组患者均无中枢神经系统、肝、脾浸润病例的出现。A组CD33表达较B组明显降低(P<0.05),而2组其它免疫表型分析结果均无明显差异(P>0.05)。2组患者治疗缓解率和中位生存期无显著性差异(P>0.05)。A组c-kit基因突变检出率与B组无显著性差异(P>0.05)。结论:在伴AML1-ETO融合基因的AML患者中,ASXL2基因突变占有一定比例,且该病患者外周血血红蛋白浓度和CD33表达往往较低,同时ASXL2基因突变与c-kit基因突变可能并无密切关系。
Objective:To analyze relation of ASXL2 gene mutation with the clinical characteristics,prognosis and C-KIT gene mutation in acute myeloid leukemia(AML)patients with AML1-ETO fusion gene.Methods:The clinical data of 63 primary AML patients with AML1-ETO fusion gene were collected and retrospectively analyzed.The mutation of ASXL2 gene was directly sequenced by PCR.The clinical characteristics,C-KIT mutation rate and prognosis were compared between the patients with ASXL2 gene mutation(group A)and non-mutation(group B).Results:Among 63 patients,8(12.70%)cases of ASXL2 mutation gene was detected.Hemoglobin level in peripheral blood of patients in group A was significantly lower than that in group B(P<0.01).There was no significant difference in sex,ages proportion of bone marrow blasts,lymph node enlargement,peripheral blood leukocytes count and platelets between the two groups(P>0.05).The infiltration of central nervous system,liver and spleen was not found in both groups.The expression of CD33 in group A was significantly lower than that in group B(P<0.05),but the results of other immunophenotype analysis were not significantly different between the two groups(P>0.05).The remission rate and median survival time were not significantly different between two groups(P>0.05).The detection rate of C-KIT gene mutation were not significantly different between group A and group B(P>0.05).Conclusion:Among AML patients with AML1-ETO fusion gene,ASXL2 gene mutation accounts for a certain ratio,and the peripheral blood hemoglobin concentration and CD33 expression in these patients are often low.At the same time,ASXL2 gene mutation may not be closely related with C-KIT gene mutation.
作者
崔鹏
徐冬
邢恬
任国华
马尚民
CUI Peng;XU Dong;XING Tian;REN Guo-Hua;MA Shang-Min(Department of Blood Rheumatism and Immunity,Zibo First Hospital,Zibo 255200,Shandong Province,China)
出处
《中国实验血液学杂志》
CAS
CSCD
北大核心
2020年第1期125-129,共5页
Journal of Experimental Hematology
