Core binding factor acute myeloid leukemia (CBF-AML), characterized by the recurrent translocations of t(8;21)(q22;q22) or inv(16)(p13.1q22)/t(16;16)(p13.1;q22), hereafter abbreviated as t(8;21) and inv(16), is associated with favorable outcome and response well to high-dose cytarabine-based therapy [1, 2].

核心结合因子急性髓细胞白血病（CBF-AML）以t（8；21）（q22；q22）或inv（16）（p13.1q22）/t（16；16）（p13.1；q22）的复发易位为特征，以下简称t（8；21）和inv（16），与高剂量阿糖胞苷治疗的良好结果和反应相关[1,2]。

Approximately 15% of CBF-AML cases are therapy-related, typically arising after topoisomerase II inhibitor exposure. While the outcomes of therapy-related acute promyelocytic leukemia are comparable to de novo cases, therapy-related CBF-AML (t-CBF-AML) has variably reported inferior outcomes compared to de novo CBF-AML (dn-CBF-AML) [3,4,5,6], often influenced by factors such as older age, antecedent malignancies, and cumulative treatment toxicity [7].

大约15%的CBF-AML病例与治疗有关，通常在拓扑异构酶II抑制剂暴露后出现。虽然与治疗相关的急性早幼粒细胞白血病的结果与新发病例相当，但与新发CBF-AML（dn-CBF-AML）相比，治疗相关的CBF-AML（t-CBF-AML）的预后较差[3,4,5,6]，通常受年龄较大，既往恶性肿瘤和累积治疗毒性等因素的影响[7]。

The ELN 2022 defined myelodysplasia-related cytogenetics (MDS-cyto) and myelodysplasia-related gene (MDS-gene) mutations are commonly found in t-AML and are associated with adverse prognosis [7, 8], but their significance in t-CBF-AML is unclear. Secondary cytogenetic abnormalities (SCA) and gene mutations are also frequent in CBF-AML, though their prognostic significance remains controversial [3, 4, 9,10,11].We retrospectively reviewed patients aged ≥18 years with newly diagnosed CBF-AML at our center between January 2013 to December 2022 to evaluate the outcomes and genetic profiles between dn-CBF-AML and t-CBF-AML.

ELN 2022定义的骨髓增生异常相关细胞遗传学（MDS-cyto）和骨髓增生异常相关基因（MDS基因）突变常见于t-AML，并与不良预后相关[7，8]，但它们在t-CBF-AML中的意义尚不清楚。继发性细胞遗传学异常（SCA）和基因突变在CBF-AML中也很常见，尽管它们的预后意义仍存在争议[3,4,9,10,11]。我们回顾性分析了2013年1月至2022年12月期间在我们中心接受新诊断的CBF-AML≥18岁的患者，以评估dn CBF-AML和t-CBF-AML之间的结局和遗传特征。

The diagnosis of CBF-AML was confirmed by karyotyping, fluorescence in situ hybridization, or detection of RUNX1::RUNX1T1 and CBFB::MYH11 by reverse transcription-polymerase chain reaction (RT-PCR). Measurable residual disease (MRD) monitoring was performed using RT-qPCR at post-induction, post-consolidation, and every 3 months for 24 months.

通过核型分析，荧光原位杂交或通过逆转录聚合酶链反应（RT-PCR）检测RUNX1：：RUNX1T1和CBFB：：MYH11来确认CBF-AML的诊断。。

The definitions of MDS-cyto, MDS-gene mutations, molecular and h.

MDS细胞，MDS基因突变，分子和h的定义。

Data availability

数据可用性

The datasets generated during and/or analysed during the current study are not publicly available due to institutional confidentiality protocols but are available from the corresponding author on reasonable request.

由于机构保密协议，当前研究期间生成和/或分析的数据集无法公开获得，但可根据合理要求从通讯作者处获得。

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Download referencesAuthor informationAuthors and AffiliationsDepartment of Medical Oncology and Hematology, Princess Margaret Cancer Center, Toronto, ON, CanadaMay Chiu, Aaron D. Schimmer, Andre C. Schuh, Aniket Bankar, Guillaume Richard-Carpentier, Hassan Sibai, Karen Yee, Marta Davidson, Steven M.

下载参考文献作者信息作者和附属机构安大略省多伦多玛格丽特公主癌症中心医学肿瘤学和血液学系，Chiu CanadaMay，Aaron D.Schimmer，Andre C.Schuh，Aniket Bankar，Guillaume Richard Carpentier，Hassan Sibai，Karen Yee，Marta Davidson，Steven M。

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PubMed Google ScholarContributionsMC contributed to the study conceptualization and design, data collection, analysis and interpretation, and writing of the manuscript. DM contributed to the conceptualization and design of the study, data interpretation, and manuscript revision.

PubMed谷歌学术贡献SMC为研究概念化和设计，数据收集，分析和解释以及手稿撰写做出了贡献。DM为研究的概念化和设计，数据解释和手稿修订做出了贡献。

ADS, ACS, AB, GRC, HS, KY, MD, SC, VG, and DM contributed to essential data. All authors approved the submitted and final version.Corresponding authorCorrespondence to.

ADS，ACS，AB，GRC，HS，KY，MD，SC，VG和DM为基本数据做出了贡献。所有作者都批准了提交的最终版本。对应作者对应。

May Chiu.Ethics declarations

赵美美。道德宣言

Competing interests

相互竞争的利益

This study has not been funded by any pharmaceutical companies. There were no direct COI specifically related to this research project. ADS has received research funding from Takeda Pharmaceuticals, BMS, and Medivir AB, and consulting fees/honorarium from Takeda, Novartis, Jazz, and Otsuka Pharmaceuticals.

这项研究没有得到任何制药公司的资助。没有与该研究项目具体相关的直接COI。。

ADS is named on a patent application for the use of DNT cells to treat AML. ADS is a member of the Medical and Scientific Advisory Board of the Leukemia and Lymphoma Society of Canada..

ADS是在一项使用DNT细胞治疗AML的专利申请中命名的。。。

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Reprints and permissionsAbout this articleCite this articleChiu, M., Schimmer, A.D., Schuh, A.C. et al. Genomic profiles and outcomes in de novo versus therapy-related core binding factor AML.

转载和许可本文引用本文Chiu，M.，Schimmer，A.D.，Schuh，A.C。等人。从头与治疗相关的核心结合因子AML的基因组概况和结果。

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Subjects

主题

Acute myeloid leukaemia

急性髓系白血病