16例儿童急性髓细胞白血病CEBPA基因突变的临床研究

Clinical study of CEBPA gene mutation in 16 children with acute myeloid leukemia

目的探讨昆明市儿童医院2015年1月—2019年6月16例儿童急性髓细胞白血病(AML)患儿CEBPA基因突变的临床预后,分析CEBPA双突变、单突变、阴性对照组的AML患儿的死亡率、复发率、(1年、2年、4年)存活比率。方法采用PCR扩增产物片段长度分析及直接测序分析法,检测60例初治AML患者CEBPA基因突变情况;采用卡方检验比较复发率、死亡率(1年、2年、4年)和存活比率。结果(1)60例AML患者中16例检测到CEBPA基因突变,突变率为26.6%,其中7例为双突变,9例为单突变;(2)CEBPA基因双突变、单突变、阴性组AML患儿的死亡率、复发率卡方检验无明显差异(P>0.05);三组满1年存活比率卡方检验无明显差异(P>0.05),满2年存活比率卡方检验有明显差异(P<0.05),且双突变占比最高;满4年存活比率卡方检验无明显差异(P>0.05)。结论CEBPA基因突变是AML常见分子突变类型,CEBPA基因双突变的AML患儿满2年存活比率高,属于预后良好基因型,对AML患者的诊断、个体化治疗和预后判断有一定的指导意义。

Objective To investigate the clinical prognosis of CEBPA gene mutation in 16 children with acute myeloid leukemia(AML)from January 2015 to June 2019 in Kunming Children’s Hospital,rate of died,relapsed,and(1 year,2 years,4 years)survival with AML were analyzed in CEBPA-doublemutated,single-mutated and negative control group,respectively.Methods PCR amplification product fragment length analysis and direct sequencing analysis were used to detect CEBPA gene mutations in 60 patients with AML.Chi-square test was used to compare rate of relapse,death,and(1 year,2 years,4 years)survival.Results(1)CEBPA-gene-mutated was detected in 16 of 60 AML patients,with a mutation rate of 26.6%.Of which 7 were double mutations and 9 were single mutation;(2)There were no significant differences in the rate of deaths and recurrences among the three groups of children with AML(P>0.05).There was no significant difference in the one-year survival rate by chi-square test between the three groups(P>0.05),and there was a significant difference in the two-year survival rate by chi-square test(P<0.05),and the double-mutated accounted for the largest number.There was no significant difference in the four-year survival rate by chi-square test(P>0.05).Conclusions CEBPA gene mutation is a common type of molecular mutation in patients with AML.The two-year survival rate of AML children with double mutation of CEBPA gene is better,it belongs to the genotype with good prognosis,and has certain guiding significance for the diagnosis,individualized treatment and prognosis judgment of AML patients.