急性髓系白血病CEBPA及GATA2基因共存突变患者的临床特征和预后分析  

Analysis of Clinical Characteristics and Prognosis of AML Patients with Co-Mutation of CEBPA Gene and GATA2 Gene

作　　者：杨雪微 李珊珊[1] 苏雁华[1] 孙嘉悦 高玉娟[1] YANG Xue-Wei;LI Shan-Shan;SU Yan-Hua;SUN Jia-Yue;GAO Yu-Juan(Department of Hematology,The First Affiliated Hospital of Harbin Medical University,Harbin 150000,Heilongjiang Province,China)

机构地区：[1]哈尔滨医科大学附属第一医院血液内科,黑龙江哈尔滨150000

出　　处：《中国实验血液学杂志》2024年第5期1313-1316,共4页Journal of Experimental Hematology

摘　　要：目的:分析CEBPA基因合并GATA2基因突变患者的临床特征和预后,为临床医生制定更精准的个体化治疗方案提供参考。方法:纳入43例于2017年1月至2022年4月就诊于哈尔滨医科大学附属第一医院的CEBPA双突变和bZIP结构域突变的急性髓系白血病患者,比较分析其中合并GATA2基因突变患者的临床特征和预后。结果:合并GATA2基因突变患者的中位年龄为48.0岁,显著低于不合并GATA2基因突变患者的57.0岁,比较差异有统计学意义(P<0.05),而两组患者性别、白细胞计数、血红蛋白浓度、血小板计数、免疫分型、骨髓及外周血原始细胞比例、完全缓解率的差异无统计学意义(P>0.05)。合并GATA2基因突变患者的中位总生存期、无事件生存期均未达到,不合并GATA2基因突变患者则分别为14.8、8.1个月,比较差异均有统计学意义(均P<0.05)。结论:合并GATA2基因突变患者的中位年龄低于不合并GATA2基因突变的患者。GATA2基因突变进一步延长了患者的生存期。Objective:To analyze the clinical characteristics and prognosis of patients with co-mutation of CEBPA gene and GATA2 gene,so as to facilitate clinicians to formulate more accurate individualized treatment plans for patients.Methods:A total of 43 acute myeloid leukemia(AML)patients with CEBPA double mutations and CEBPA-bZIP domain mutation admitted to the First Affiliated Hospital of Harbin Medical University from January 2017 to April 2022 were included,and the clinical characteristics and prognosis of patients with GATA2 gene mutation among them were compared and analyzed.Results:The median age of patients with GATA2 gene mutation was 48.0 years,which was significantly lower than 57.0 years of patients without GATA2 gene mutation(P<0.05).However,there were no significant differences in sex,white blood cell count,hemoglobin concentration,platelet count,immunophenotype,bone marrow and peripheral blood blast cell ratio and complete remission rate between the two groups(P>0.05).The median overall survival and event-free survival time of patients with GATA2 gene mutation were not reached,while those of patients without GATA2 gene mutation were 14.8 and 8.1 months,respectively(both P<0.05).Conclusion:The median age of patients with GATA2 gene mutation is lower than that of patients without GATA2 gene mutation.GATA2 gene mutation further prolongs the survival time of AML patients with CEBPA double mutations and CEBPA-bZIP domain mutation.

关 键 词：急性髓系白血病 CEBPA基因突变 GATA2基因突变 共存基因突变 

分 类 号：R733.71[医药卫生—肿瘤]