摘要
背景伴8号染色体三体(+8)在成人急性髓系白血病(AML)中通常提示预后中等或较差,但其在儿童AML中的临床意义,目前研究较少。目的探讨+8 AML患儿的临床特征、早期疗效、预后结局及影响因素。设计病例系列报告。方法纳入2009年1月至2023年12月在北京大学人民医院儿科就诊的+8 AML患儿的临床资料,分析其临床特征、细胞遗传学特征、诱导化疗后完全缓解(CR)和总生存(OS)情况,通过二元Logistic回归模型进行CR影响因素分析,采用Kaplan-Meier方法计算生存函数并用log-rank检验进行比较,通过Cox回归模型进行OS影响因素分析。主要结局指标诱导化疗后CR获得率和OS。结果研究期间812例原发性AML患儿中,+8 AML患儿48例(5.9%),除外未完成诱导化疗的1例,47例纳入本文分析,女17例(36.2%),初诊时中位年龄9岁。单纯+8 AML患儿11例(23.4%),伴有额外遗传学异常患儿36例(76.6%)。依据2020年欧洲白血病网络(ELN)AML危险度分层标准,+8 AML伴预后良好遗传学异常15例、伴预后中等遗传学异常17例、伴预后不良遗传学异常15例。最常见的染色体异常为合并KMT2A重排(19.1%),最常见的基因突变为合并FLT3-ITD突变(29.8%)。诱导化疗后CR获得率63.8%,多因素分析结果显示,伴预后不良遗传学异常是CR的独立影响因素(HR=0.13,95%CI:0.02~0.93)。47例患儿中位生存时间为40个月,3年OS为(77.8±6.2)%,未发现OS的独立影响因素。结论+8染色体在本研究AML儿童中发生率低于成人及国外儿童,易合并额外遗传学异常,伴预后不良遗传学异常者在诱导化疗后不容易获得CR,未发现OS的独立影响因素。
Background Trisomy of chromosome 8(+8)in adult acute myeloid leukemia(AML)is typically associated with intermediate or poor prognosis,but its clinical significance in children with AML is limited.Objective To investigate the clinical characteristics,early treatment outcomes,and prognostic outcomes of children with+8 AML.Design Case series report.Methods Clinical data of children with+8 AML diagnosed at Peking University People's Hospital from January 2009 to December 2023 were included.The study analyzed their clinical characteristics,cytogenetic features,complete remission(CR)after induction chemotherapy,overall survival(OS).The binary logistic regression model was used to analyze the factors related to CR.The Kaplan-Meier method and log-rank test were used for survival analysis,and the Cox regression model was used for the analysis of factors related to OS.Main outcome measures CR after induction chemotherapy and OS.Results Among the 812 children with de novo AML during the period,there were 48 children with+8 AML,accounting for 5.9%.A total of 47 children were included in the study(excluding 1 child who did not complete induction chemotherapy),with 17 females(36.2%)and a median age of 9 years.There were 11 children(23.4%)with isolated+8 AML and 36 children(76.6%)with additional chromosomal abnormalities.According to the 2020 European LeukemiaNet(ELN)AML risk stratification criteria,there were 15 chilren in the group with favorable genetic abnormalities,17 children with intermediate genetic abnormalities,and 15 children with unfavorable genetic abnormalities.The most common chromosomal abnormality was KMT2A rearrangement(19.1%),and the most common gene mutation was FLT3-ITD(29.8%).CR was achieved in 30 children(63.8%)after induction chemotherapy,and multivariate analysis found that the presence of unfavorable genetic abnormalities was an independent risk factor for CR(HR=0.13,95%CI:0.02~0.93).The median survival time was 40 months,with a 3-year OS of(77.8±6.2)%,and no independent factors affecting OS were identified.Conclusion The incidence of+8 chromosomes in children with AML is lower than that in adults and children from abroad.Children with+8 AML are prone to be combined with additional genetic abnormalities.Those with unfavorable genetic abnormalities are less likely to achieve CR after induction chemotherapy,while no independent factors affecting OS were found.
作者
郑方圆
王淼
陆爱东
贾月萍
张乐萍
曾慧敏
ZHENG Fangyuan;WANG Miao;LU Aidong;JIA Yueping;ZHANG Leping;ZENG Huimin(Department of Pediatrics,Peking University People's Hospital,Beijing 100044,China)
出处
《中国循证儿科杂志》
北大核心
2025年第3期181-184,共4页
Chinese Journal of Evidence Based Pediatrics
基金
国家自然科学基金:82000151
北京大学人民医院研究与发展基金:RZ 2023-04。
