伴有CEBPA双位点突变的急性髓系白血病临床特征及预后分析

章俏雷　江锦红　刘永华　王晓丽　江妤　叶琇锦　方炳木

[摘要] 目的 分析伴有CEBPA雙位点突变的急性髓系白血病（AML）的临床特征及预后。 方法 回顾性分析2013年1月至2019年5月浙江大学医学院附属第一医院及丽水市人民医院血液科连续收治的AML（非M3）患者1030例，其中CEBPA双位点突变AML共75例为试验组，非CEBPA双位点突变AML共955例为对照组。比较两组患者的临床特征及预后差异。 结果 试验组AML患者FAB分型中M4比例明显高于对照组（P=0.004）;试验组初诊PLT水平低于对照组（P=0.041）;试验组预后中等染色体核型比例明显高于对照组（P=0.001）;试验组CD7抗原阳性比例明显高于对照组（P<0.001）;试验组患者早期死亡率为4.00%，低于对照组患者的13.10%（P=0.022），其预计5年总生存（OS）率明显高于对照组（57.33% vs. 30.99%，P<0.001）;试验组中多因素分析显示，年龄≥60岁、HGB<88.75 g/L和不良染色体核型是预后不良的独立危险因素。 结论 试验组AML患者因有较低的早期死亡率，其预后明显优于对照组患者;年龄≥60岁、HGB<88.75 g/L和不良染色体核型是CEBPA双位点突变AML患者预后不良的独立危险因素。

[关键词] CEBPA双位点突变;急性髓系白血病;临床特征;预后

[中图分类号] R733.7          [文献标识码] B          [文章编号] 1673-9701（2021）04-0042-04

Clinical features and prognostic analysis of acute myeloid leukemia with double CEBPA mutations

ZHANG Qiaolei1   JIANG Jinhong1   LIU Yonghua1   WANG Xiaoli1   JIANG Yu1   YE Xiujin2   FANG Bingmu1

1.The Sixth Hospital Affiliated to Wenzhou Medical University， Lishui Municipal People′s Hospital in Zhejiang Province， Lishui   323000， China; 2.The First Affiliated Hospital of Zhejiang University School of Medicine， Hangzhou   310003，China

[Abstract] Objective To analyze the clinical features and prognosis of acute myeloid leukemia（AML） with double CEBPA mutations. Methods A retrospective analysis was made on 1030 consecutive AML（non-M3） patients admitted to the First Affiliated Hospital of Zhejiang University School of Medicine and the hematology department of Lishui Municipal People′s Hospital from January 2013 to May 2019， of which CEBPA double-site mutant AML（n=75） were the experimental group and non-CEBPA double-site mutant AML（n=955） were the control group. The clinical features and prognostic analysis of the two groups were compared. Results The proportion of M4 in FAB typing of AML patients in the experimental group was significantly higher than that in the control group（P=0.004）. The PLT level in the experimental group was lower than that in the control group（P=0.041）. The proportion of moderate chromosome karyotype in the experimental group was significantly higher than that in the control group（P=0.001）. The positive rate of CD7 antigen in the experimental group was significantly higher than that in the control group（P<0.001）. The early mortality rate of the patients in the experimental group was 4.00%， which was lower than that of the control group （13.10%） （P=0.022）， and its estimated 5-year overall survival （OS） rate was significantly higher than that of the control group （57.33% vs 30.99%， P<0.001）. Multivariate analysis in the experimental group showed that age ≥60 years old， HGB<88.75 g/L and poor karyotype were independent risk factors for poor prognosis. Conclusion The prognosis of AML patients in the experimental group is obviously better than that in the control group due to their lower early mortality rate. Age≥60 years old， HGB<88.75 g/L and poor chromosome karyotype are independent risk factors for poor prognosis of CEBPA double site mutant AML patients.

[Key words] Double CEBPA mutations; Acute myeloid leukemia; Clinical features; Prognosis

急性髓系白血病（Acute myeloid leukemia，AML）是一组高度异质性血液系统恶性肿瘤[1-5]。核型异常是AML—个重要的预后标志。尽管如此，约有50%的AML患者缺少特征性的染色体标志物，而这些患者对治疗的反应具有很大的差异[6]。AML患者伴CEBPA基因突变是AML中很大的一个亚型，占AML患者的10%～25%[7-9]。CEBPA基因定位于染色体19q13.1，cDNA全长2385 bp。CEBPA蛋白是维持造血系统粒系分化的重要转录因子，在调节细胞增殖与分化的平衡中起着关键的作用。CEBPA基因突变可分为单突变和双突变这两大类型，CEBPA基因双突变是AML患者预后良好的分子标志[10-12]。国内绝大多数有关AML患者CEBPA基因突变研究样本量均较小且无长期预后数据[13-14]。为此，本研究回顾性分析了1030例初诊AML（非APL）患者的临床资料，以探讨初诊CEBPA基因双突变AML患者的临床特征及预后，现报道如下。

1 资料与方法