Relationship between CEBPA gene mutation and clinical characteristics and prognosis of acute myeloid leukemia
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摘要: 目的:探讨CEBPA基因突变与急性髓系白血病(AML)临床特征及预后的关系。方法:收集2018年1月1日—2020年1月1日初次就诊于我院的154例AML患者(排除M3型)的详细信息,其中CEBPA双突变(CEBPAdm)23例,CEBPA单突变(CEBPAsm)8例,CEBPA突变阴性(CEBPA-)123例。对AML患者的临床特征及预后进行回顾性分析,比较3组患者间完全缓解(CR)率、总生存期(OS)和无进展生存时间(PFS)。结果:与CEBPA-组比较,CEBPAdm组初诊年龄小(P=0.002),血小板计数低(P<0.001)、血红蛋白高(P=0.030)、白细胞计数高(P=0.041),2组间性别分布、骨髓原始细胞计数差异无统计学意义;CEBPAdm组FAB分型多为M2型(P=0.001),染色体核型多为正常核型(P=0.001),CEBPA-组M5型多于CEBPAdm组(P=0.016)。CEBPAdm组多表达CD7(P<0.001),其余免疫表型CD13、CD15、CD33、CD38、CD117、HLA-DR、CD56在2组分布中差异无统计学意义。CEBPAdm、CEBPA-、CEBPAsm三组比较,CEBPAdm多合并WT1基因突变(P=0.006),CEBPAsm组TET基因突变多于CEBPAdm组(P=0.027),NPM1、FLT3基因突变在3组分布中差异无统计学意义;CEBPAdm组首次CR率及总CR率均明显高于CEBPAsm组及CEBPA-组(P<0.001,P<0.001),且OS(60个月,95%CI 28.115~91.885个月)和PFS(53个月,95%CI 4.664~101.336个月)较其余2组均明显延长(均P<0.05),而CEBPAsm组在预后上并没有这种优势,与CEBPA-组比较差异无统计学意义。结论:CEBPAdm组初诊年龄小、血小板计数低、血红蛋白高、白细胞计数高;FAB分型多为M2型,染色体核型多为正常核型;多合并WT1基因突变;CR率高,OS、PFS明显延长,治疗效果好,预后良好。Abstract: Objective: To explore the relationship between CEBPA gene mutation and clinical features and prognosis of patients with acute myeloid leukemia(AML).Methods: From January 1, 2018 to January 1, 2020, the detailed information of 154 AML patients(excluding M3 type) was collected, including 23 cases of CEBPA double mutation(CEBPAdm), 8 cases of CEBPA single mutation(CEBPAsm) and 123 cases of CEBPA mutation negative(CEBPA-). The clinical features and prognosis of AML patients were retrospectively analyzed, and the complete response(CR) rate, overall survival(OS) and progression-free survival(PFS) of the 3 groups were compared.Results: Compared with CEBPA- group, the CEBPAdm group had a younger age at first diagnosis(P=0.002), lower platelet count(P<0.001), higher hemoglobin(P=0.030) and higher white blood cell count(P=0.041). There was no significant difference in sex and bone marrow primitive cell count between the 2 groups. The FAB classification of the CEBPAdm group was M2(P=0.001), the karyotype was normal(P=0.001), M5 type was higher in CEBPA- group than that in the CEBPAdm group(P=0.016). CEBPAdm group mostly expressed CD7(P<0.001), but there was no significant difference in the distribution of other immunophenotypes CD13, CD15, CD33, CD38, CD117, HLA-DR and CD56 between the 2 groups. Compared with CEBPA-and CEBPAsm group, CEBPAdm group mostly combined with WT1 gene mutation(P=0.006), the mutation of TET gene in CEBPAsm group was more than that in CEBPAdm group(P=0.027), and there was no significant difference in the distribution of NPM1 and FLT3 gene mutations among the 3 groups. The first CR rate and total CR rate in CEBPAdm group were significantly higher than those in CEBPAsm group and CEBPA- group(P<0.001, P<0.001), and the OS(60 months, 95%CI 28.115-91.885 months) and PFS(53 months, 95%CI 4.664-101.336 months) in CEBPAdm group were significantly higher than those in CEBPAsm group and CEBPA- group(P<0.05).Conclusion: Patients in the CEBPAdm group are young at first diagnosis, wiht low platelet count, high hemoglobin and high white blood cell count. FAB typing is mostly M2 type, and chromosome karyotype is mostly normal karyotype. WT1 gene mutation is found in most patients. The CR rate is high, the OS and PFS are obviously prolonged, and the treatment effect and the prognosis is good.
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Key words:
- acute myeloid leukemia /
- CEBPA gene mutation /
- clinical characteristics /
- prognosis
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