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89例儿童AML基因突变的特征及对临床危险度分层、预后的影响

Characteristics of AML gene mutations in 89 children and their impact on clinical risk stratification and prognosis
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摘要 目的通过对昆明市儿童医院的89例AML(非M3型)患儿的染色体、融合基因及基因突变谱的特征进行分析,探讨其与临床危险度分层、治疗缓解情况及预后之间的关系。方法回顾性收集2019年12月-2022年10月在昆明市儿童医院血液科收治的89例AML(非M3型)患儿的临床特征、染色体检查、融合基因及髓系肿瘤多基因突变等信息,进行统计学分析。结果有融合基因突变的有47例,其中最常见的融合基因是AML1/ET0。髓系肿瘤多基因测序中87%患儿检测到突变。通过单因素方差分析、相关性分析以及logistic回归分析三种方法,MLL重排、FLT3突变的患者预后较差,CEBPA突变的患者预后较好。结论本研究发现MLL重排、FLT3突变与不良预后正相关,CEBPA突变与不良预后负相关。 Objective By analyzing the characteristics of chromosomes,fusion genes and gene mutation profiles of 89 children with acute myeloid leukemia(AML)(non-M3 type)in Kunming Children's Hospital,this study explores their relationship with clinical risk stratification,treatment response and prognosis.Methods The clinical characteristics,chromosome examination,fusion genes and multiple gene mutations of myeloid tumors of 89 children with AML(non-M3 type)admitted to the Hematology Department of Kunming Children's Hospital from December 2019 to October 2022 were retrospectively collected and statistically analyzed.Results There were 47 cases with fusion gene mutations,among which the most common fusion gene was AML1/ET0.Mutations were detected in 87%of children in multi gene sequencing of with myeloid tumors.Through one-way ANOVA,correlation analysis and logistic regression analysis,it was found that patients with MLL rearrangement and FLT3 mutation had a poorer prognosis,while patients with CEBPA mutation had a better prognosis.Conclusions This study found that MLL rearrangement and FLT3 mutation are positively correlated with poor prognosis,while CEBPA mutation is negatively correlated with poor prognosis.
作者 肖祖刚 杨春会 宋春艳 李娜 崔婷婷 XIAO Zugang;YANG Chunhui;SONG Chunyan;LI Na;CUI Tingting(Hematology Department,Kunming Children's Hospital/Affiliated Children's Hospital of Kunming Medical University,Kunming Yunnan 650100,China)
出处 《云南医药》 2025年第3期5-9,共5页 Medicine and Pharmacy of Yunnan
关键词 儿童 急性髓系白血病 染色体 基因突变 children acute myeloid leukemia chromosome genetic mutations
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