急性髓细胞白血病患者ASXL2和ZBTB7A基因突变及与预后的关系  

The Relationship between ASXL2 and ZBTB7A Gene Mutations and Prognosis in Patients with Acute Myeloid Leukemia

作　　者：曹慧琴[1] 拓进宝 CAO Hui-Qin;TUO Jin-Bao(Department of Hematology,The Affiliated Hospital of Yan'an University,Yan'an 716000,Shaanxi Province,China)

机构地区：[1]延安大学附属医院血液内科,陕西延安716000

出　　处：《中国实验血液学杂志》2021年第2期450-455,共6页Journal of Experimental Hematology

摘　　要：目的:探讨急性髓细胞白血病(acute myeloid leukemia,AML)患者ASXL2和ZBTB7A基因突变及其与患者预后的相关性。方法:选取2014年1月-2016年1月在本院接受治疗的42例t(8;21)AML患者,对其骨髓样本进行ASXL2和ZBTB7A基因测序,并分析携带ASXL2和ZBTB7A突变的AML患者的遗传特征及其与预后的相关性。结果:在t(8;21)AML患者中发现了ASXL2(33.3%)和ZBTB7A(9.5%)突变。ASXL2突变与野生型患者相比,突变型患者诊断时的白细胞数量显著较高[(9.49±1.85)×10^(9)/L vs(8.3±1.14)×10^(9)/L,P=0.042],性染色体缺失的频率更低(分别为21.43%vs 71.43%,P=0.002),ASXL2突变与ASXL1突变互斥(P=0.035),ASXL2突变患者中染色质修饰基因ATRX和BCOR突变比例较高(P=0.032,P=0.005)。此外,ASXL2和ZBTB7A突变对总体或无事件生存率无明显影响。结论:在t(8;21)AML患者中检测到ASXL2和ZBTB7A突变。ASXL2和ZBTB7A基因突变对AML患者预后无明显影响。Objective:To investigate the relationship between acute myeloid leukemia(AML)patients ASXL2,ZBTB7 A gene mutations and the prognosis.Methods:42 AML Patients treated in our hospital from January 2014 to January 2016 were selected and ASXL2 and ZBTB7 A genes of their bone marrow samples were sequenced,the genetic characteristics and prognosis of core-binding factor-AML(CBF-AML)patients with A SXL2 and ZBTB7 A mutations were analyzed.Results:ASXL2(33.3%)and ZBTB7 A(9.5%)mutations were found in t(8;21)AML patients.Compared with wild-type,patients with A SXL2 mutations showed significantly higher white blood cell count at diagnosis[(9.49±1.85)×10^(9)/L vs(8.3±1.14)×10^(9)/L,P=0.03]and lower frequency of sex chromosome deletions(21.43%vs 71.43%,P=0.02),respectively.ASXL2 mutation showed mutually exclusive with A SXL1 mutation(P=0.035).The proportion of chromatin modifier gene ATRX and BCOR mutations was higher in patients with ASXL2 mutation(P=0.032,P=0.005).ASXL2 and ZBTB7 A mutations showed no significant effect to overall survival or event-free survival rate in patients with AML.Conclusion:ASXL2 and ZBTB7 A mutations are frequently found in t(8;21)AML patients.The mutation of ASXL2 and ZBTB7 A genes shows no significant effect on the prognosis of AML patients.

关 键 词：ASXL2 ZBTB7A 急性髓细胞白血病 预后 

分 类 号：R733.71[医药卫生—肿瘤]