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[急性髓系白血病患者ASXL2与ZBTB7A基因突变及其与预后的关系]

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

作者信息

Cao Hui-Qin, Tuo Jin-Bao

机构信息

Department of Hematology, The Affiliated Hospital of Yan'an University, Yan'an 716000, Shaanxi Province, China.

Department of Hematology, The Affiliated Hospital of Yan'an University, Yan'an 716000, Shaanxi Province, China,E-mail:

出版信息

Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2021 Apr;29(2):450-455. doi: 10.19746/j.cnki.issn.1009-2137.2021.02.023.

Abstract

OBJECTIVE

To investigate the relationship between acute myeloid leukemia (AML) patients ASXL2, ZBTB7A gene mutations and the prognosis.

METHODS

42 AML Patients treated in our hospital from January 2014 to January 2016 were selected and ASXL2 and ZBTB7A genes of their bone marrow samples were sequenced, the genetic characteristics and prognosis of core-binding factor-AML(CBF-AML) patients with ASXL2 and ZBTB7A mutations were analyzed.

RESULTS

ASXL2 (33.3%) and ZBTB7A (9.5%) mutations were found in t (8; 21) AML patients. Compared with wild-type, patients with ASXL2 mutations showed significantly higher white blood cell count at diagnosis [(9.49±1.85)×10/L vs (8.3±1.14)×10/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 ASXL1 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 ZBTB7A mutations showed no significant effect to overall survival or event-free survival rate in patients with AML.

CONCLUSION

ASXL2 and ZBTB7A mutations are frequently found in t (8; 21) AML patients. The mutation of ASXL2 and ZBTB7A genes shows no significant effect on the prognosis of AML patients.

摘要

目的

探讨急性髓系白血病(AML)患者ASXL2、ZBTB7A基因突变与预后的关系。

方法

选取2014年1月至2016年1月在我院治疗的42例AML患者,对其骨髓样本中的ASXL2和ZBTB7A基因进行测序,分析ASXL2和ZBTB7A基因突变的核心结合因子AML(CBF-AML)患者的遗传特征及预后。

结果

在t(8;21)AML患者中发现ASXL2(33.3%)和ZBTB7A(9.5%)基因突变。与野生型相比,ASXL2基因突变患者诊断时白细胞计数显著更高[(9.49±1.85)×10/L对(8.3±1.14)×10/L,P=0.03],性染色体缺失频率更低(21.43%对71.43%,P=0.02)。ASXL2突变与ASXL1突变相互排斥(P=0.035)。ASXL2基因突变患者中染色质修饰基因ATRX和BCOR突变比例更高(P=0.032,P=0.005)。ASXL2和ZBTB7A基因突变对AML患者的总生存期或无事件生存率无显著影响。

结论

ASXL2和ZBTB7A基因突变在t(8;21)AML患者中常见。ASXL2和ZBTB7A基因突变对AML患者预后无显著影响。

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