Clinical characteristics and prognostic study of adult acute myeloid leukemia patients with ASXL1 mutations
Clinical characteristics and prognostic study of adult acute myeloid leukemia patients with ASXL1 mutations
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ASXL1突变成人急性髓细胞白血病患者的临床特征及预后研究
DOI：
10.1080/16078454.2020.1847801
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发表时间：
2020-01-01
期刊：
影响因子：
1.9
通讯作者：
Wang, Shaoyuan
中科院分区：
文献类型：
--
作者：
Lin, Yun;Wang, Yaping;Wang, Shaoyuan
摘要目的：本研究共纳入156例成人急性髓系白血病（AML）患者，以探讨ASXL 1突变的临床特征和预后影响。方法：分析ASXL 1基因突变与其他基因突变的关系、临床特征、预后影响。结果如下：ASXL 1基因突变在M5亚型和中危核型中最常见，与TET 2、DNMT 3A和PHF 6基因突变相关。共有145例患者被纳入预后分析;结果显示ASXL 1突变对OS和DFS没有影响。在正常核型AML（CN-AML）和老年（≥60岁）AML中，ASXL 1突变对OS显示出不良影响（分别为P = 0.022; p = 0.019），对DFS显示出不良预后趋势（分别为p = 0.173; p = 0.108）。多变量分析中，ASXL 1突变也是CN-AML和老年（≥60岁）AML患者OS的独立不利预后因素，以及老年（≥60岁）AML患者DFS的不利因素。结果还表明，尽管ASXL 1突变与TET 2、DNMT 3A和PHF 6突变相关，但当与ASXL 1突变重合时，AML的预后没有显著影响。讨论内容：我们的结果的可靠性需要通过涵盖大量AML患者的前瞻性随机对照研究进一步证实。结论：ASXL 1基因突变可能是老年AML和CN-AML患者预后不良的指标。
ABSTRACT Objectives: A total of 156 adult acute myeloid leukemia (AML) patients were enrolled in this study to explore the clinical characteristics and prognostic impact of ASXL1 mutations. Methods: Clinical characteristics, prognostic impact and the association between ASXL1 mutations and some other mutations were analyzed. Results: We found ASXL1 mutations were most frequently found in M5 subtype and intermediate risk karyotype and were correlated with TET2, DNMT3A and PHF6 mutations. A total of 145 patients were included in prognostic analysis; results showed ASXL1 mutations had no impact on OS and DFS. In normal karyotype-AML (CN-AML) and older (≥60 years) AML, ASXL1 mutations showed adverse impact on OS (P = 0.022; p = 0.019, respectively) and showed adverse prognostic tendency on DFS (p = 0.173; p = 0.108, respectively). ASXL1 mutations were also independent unfavourable prognostic factors for OS on CN-AML and older (≥60 years) AML patients and unfavourable factors for DFS on older (≥60 years) AML in multivariate analysis. Results also indicated that though ASXL1 mutations were associated with TET2, DNMT3A and PHF6 mutations, when coinciding with ASXL1 mutations, the prognosis of AML was not significantly impacted. Discussion: The reliability of our results need to be further confirmed by prospective randomized controlled studies covering a large numbers of AML patients. Conclusion: The results showed ASXL1 mutations may act as a poor prognostic index especially in elder AML and CN-AML patients.