【摘要】 目的 探讨儿童急性髓系白血病(AML)的基因突变特征。方法 回顾性分析95例初治原发儿童AML的临床资料，通过二代基因测序(NGS)检测34种AML常见基因突变。结果 95例患者中，男52例，女43例，男女比例1.21∶1,初诊年龄1～14岁。常见基因突变检出率由高到低依次为C-KIT(22.1%)、CEBPA(13.7%)、NRAS(11.6%)、FLT3-ITD(9.5%)。M2、M4以C-KIT突变(28.1%、66.7%)最常见，M1为FLT3-ITD突变(40.0%)、CEBPA突变(40.0%),M5为NRAS突变(22.2%),FAB亚型中常见基因突变分布差异无统计学意义(P=0.158)。正常染色体核型及异常核型中均以C-KIT突变(17.9%、36.8%)最常见，常见基因突变在两组中分布差异无统计学意义(P=0.298)。CBF融合基因患者常见基因突变以C-KIT为主(68.0%),MLL融合基因患者为NRAS突变(50.0%),两组中常见基因突变分布差异有统计学意义(P=0.006)。常见基因突变与未突变组比较发现，C-KIT突变为预后不良因素(P=0.021)。结论 儿童AML中常见基因突变依次为C-KIT、CEBPA、NRAS、FLT3-ITD,C-KIT突变为预后不良因素，完善基因突变检查，有利于个体化治疗。更多还原

【Abstract】 Objective To investigate the characteristics of gene mutation in children with acute myeloid leukemia(AML).Methods The clinical data of 95 cases of primary AML in children were analyzed retrospectively. Thirty-four common gene mutations in AML were detected by next-generation sequencing(NGS).Results There were 52 males and 43 females, with a male to female ratio of 1.21∶1. The age of initial diagnosis was 1-14 years old. The detection rates of common gene mutations in 95 children from high to low were C-KIT(22.1%), CEBPA(13.7%), NRAS(11.6%) and FLT3-ITD(9.5%). C-KIT mutation(28.1%, 66.7%) was the most common in M2 and M4, FLT3-ITD mutation(40.0%), CEBPA mutation(40.0%) in M1, and NRAS mutation(22.2%) in M5. There was no statistical difference in the distribution of common gene mutations in FAB subtypes(P=0.158). C-KIT mutation(17.9%, 36.8%) was the most common in normal and abnormal karyotypes, and there was no statistical difference in the distribution of common gene mutations between the two groups(P=0.298). C-KIT mutation was the most common gene mutation in children with CBF fusion gene(68.0%), and NRAS mutation in children with MLL fusion gene(50.0%). There was significant difference in the distribution of common gene mutations between the two groups(P=0.006). The comparison between gene mutation and non mutation group, it was found that C-KIT mutation was a poor prognostic factor(P=0.021).Conclusion The common gene mutations in children with AML are C-KIT, CEBPA, NRAS and FLT3-ITD. C-KIT mutation is a poor prognostic factor. The gene mutation examination is conducive to individualized treatment.更多还原