• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

哥伦比亚两个癌症中心儿科急性髓细胞白血病患者队列的基因组改变。

Genomic alterations in a cohort of pediatric acute myeloid leukemia patients at two cancer centers in Colombia.

机构信息

Grupo de Patología Molecular, Universidad Nacional de Colombia, Bogotá D.C., Colombia.

Servicios Médicos Yunis Turbay Y Cía S.A.S., Instituto de Genética, Calle 86B # 49D-28, Of 305, Bogotá D.C., Colombia.

出版信息

Int J Hematol. 2023 Feb;117(2):269-277. doi: 10.1007/s12185-022-03475-w. Epub 2022 Oct 24.

DOI:10.1007/s12185-022-03475-w
PMID:36279042
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9889450/
Abstract

Few studies identifying genomic aspects in pediatric acute myeloid leukemia patients in Latin American countries have been reported. The aim of this study was to identify genomic alterations, clinical characteristics and outcomes in a cohort of pediatric AML patients. This descriptive observational cohort study included patients with confirmed de novo acute myeloid leukemia up to 18 years of age. Cytogenetics and conventional FISH analysis, next-generation sequencing and PCR testing were performed. The correlation of genomic data with treatment response and outcomes were analyzed. Of the 51 patients analyzed, 67.4% had a cytogenetic abnormality and 74.5% had a genetic variant. FLT3 variants (ITD or TKD D835) were found in 27.4%, followed by NRAS (21.6%), KRAS (13.7%) and WT1 and KIT (11.8%). Patients were stratified by risk (66.6% high-risk) after the end of induction. FLT3-ITD was associated with relapse (OR 11.25; CI 1.89-66.72, p 0.006) and NRAS with death during induction (OR 16.71; CI 1.51-184.59, p 0.022). Our study highlights the importance of rapid incorporation of genetic testing in pediatric AML in Colombia, as it directly affects treatment decisions and outcomes. Incorporation of targeted therapies with conventional chemotherapy is an increasingly urgent need in pediatric patients.

摘要

在拉丁美洲国家,鲜有针对儿科急性髓系白血病患者的基因组研究报告。本研究旨在确定儿科急性髓系白血病患者队列中的基因组改变、临床特征和结局。本研究采用描述性观察性队列设计,纳入了确诊为初发急性髓系白血病且年龄不超过 18 岁的患者。进行了细胞遗传学和常规 FISH 分析、下一代测序和 PCR 检测。分析了基因组数据与治疗反应和结局的相关性。在分析的 51 例患者中,67.4%存在细胞遗传学异常,74.5%存在基因突变。FLT3 变异(ITD 或 TKD D835)占 27.4%,其次是 NRAS(21.6%)、KRAS(13.7%)和 WT1 和 KIT(11.8%)。诱导结束后,患者根据风险(66.6%为高危)进行分层。FLT3-ITD 与复发相关(OR 11.25;CI 1.89-66.72,p 0.006),NRAS 与诱导期间死亡相关(OR 16.71;CI 1.51-184.59,p 0.022)。本研究强调了在哥伦比亚迅速开展儿科急性髓系白血病基因检测的重要性,因为它直接影响治疗决策和结局。在儿科患者中,将靶向治疗与常规化疗结合使用是一项日益紧迫的需求。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/80f9/9889450/44d460e907aa/12185_2022_3475_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/80f9/9889450/44d460e907aa/12185_2022_3475_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/80f9/9889450/44d460e907aa/12185_2022_3475_Fig1_HTML.jpg

相似文献

1
Genomic alterations in a cohort of pediatric acute myeloid leukemia patients at two cancer centers in Colombia.哥伦比亚两个癌症中心儿科急性髓细胞白血病患者队列的基因组改变。
Int J Hematol. 2023 Feb;117(2):269-277. doi: 10.1007/s12185-022-03475-w. Epub 2022 Oct 24.
2
High WT1 mRNA expression after induction chemotherapy and FLT3-ITD have prognostic impact in pediatric acute myeloid leukemia: a study of the Japanese Childhood AML Cooperative Study Group.诱导化疗后高 WT1 mRNA 表达和 FLT3-ITD 对儿童急性髓系白血病具有预后影响:日本儿童急性髓系白血病合作研究组的研究。
Int J Hematol. 2012 Oct;96(4):469-76. doi: 10.1007/s12185-012-1163-1. Epub 2012 Aug 23.
3
FMS-Like Tyrosine Kinase 3 (FLT3) and Nucleophosmin 1 (NPM1) in Iranian Adult Acute Myeloid Leukemia Patients with Normal Karyotypes: Mutation Status and Clinical and Laboratory Characteristics.伊朗正常核型成年急性髓系白血病患者中FMS样酪氨酸激酶3(FLT3)和核仁磷酸蛋白1(NPM1):突变状态及临床和实验室特征
Turk J Haematol. 2017 Dec 1;34(4):300-306. doi: 10.4274/tjh.2016.0489. Epub 2017 Mar 15.
4
Uncovering the Genomic Landscape in Newly Diagnosed and Relapsed Pediatric Cytogenetically Normal FLT3-ITD AML.揭示新诊断和复发的儿童细胞遗传学正常 FLT3-ITD AML 中的基因组特征。
Clin Transl Sci. 2019 Nov;12(6):641-647. doi: 10.1111/cts.12669. Epub 2019 Aug 20.
5
Mutation of FLT3 gene in acute myeloid leukemia with normal cytogenetics and its association with clinical and immunophenotypic features.急性髓系白血病伴正常细胞遗传学中 FLT3 基因突变及其与临床和免疫表型特征的关系。
Med Oncol. 2011 Jun;28(2):544-51. doi: 10.1007/s12032-010-9485-4. Epub 2010 Mar 31.
6
Molecular evaluation of gene mutation profiles and copy number variations in pediatric acute myeloid leukemia.儿童急性髓细胞白血病基因突变谱和拷贝数变异的分子评估。
Leuk Res. 2022 Nov;122:106954. doi: 10.1016/j.leukres.2022.106954. Epub 2022 Sep 20.
7
The prevalence and clinical profiles of FLT3-ITD, FLT3-TKD, NPM1, C-KIT, DNMT3A, and CEBPA mutations in a cohort of patients with de novo acute myeloid leukemia from southwest China.中国西南地区一组初发急性髓系白血病患者中FLT3-ITD、FLT3-TKD、NPM1、C-KIT、DNMT3A和CEBPA突变的患病率及临床特征
Tumour Biol. 2016 Jun;37(6):7357-70. doi: 10.1007/s13277-015-4601-x. Epub 2015 Dec 16.
8
High frequency of rare structural chromosome abnormalities at relapse of cytogenetically normal acute myeloid leukemia with FLT3 internal tandem duplication.伴有FLT3内部串联重复的细胞遗传学正常的急性髓系白血病复发时罕见结构染色体异常的高频率
Cancer Genet. 2014 Oct-Dec;207(10-12):467-73. doi: 10.1016/j.cancergen.2014.09.001. Epub 2014 Sep 16.
9
Stability and prognostic influence of FLT3 mutations in paired initial and relapsed AML samples.配对的初发和复发急性髓系白血病样本中FLT3突变的稳定性及预后影响
Leukemia. 2006 Jul;20(7):1217-20. doi: 10.1038/sj.leu.2404246. Epub 2006 Apr 27.
10
Treatment with FLT3 inhibitor in patients with FLT3-mutated acute myeloid leukemia is associated with development of secondary FLT3-tyrosine kinase domain mutations.FLT3 抑制剂治疗 FLT3 突变型急性髓系白血病与继发性 FLT3 酪氨酸激酶结构域突变的发生相关。
Cancer. 2014 Jul 15;120(14):2142-9. doi: 10.1002/cncr.28705. Epub 2014 Apr 15.

引用本文的文献

1
Molecular genetics profiling of core-binding factor acute myeloid leukemia in pediatrics.儿童核心结合因子急性髓系白血病的分子遗传学分析
Ther Adv Hematol. 2025 Apr 16;16:20406207251330064. doi: 10.1177/20406207251330064. eCollection 2025.

本文引用的文献

1
Outcomes of intensification of induction chemotherapy for children with high-risk acute myeloid leukemia: A report from the Children's Oncology Group.高危急性髓系白血病患儿强化诱导化疗的结果:来自儿童肿瘤协作组的报告。
Pediatr Blood Cancer. 2021 Dec;68(12):e29281. doi: 10.1002/pbc.29281. Epub 2021 Oct 1.
2
Cytogenetic risk groups for childhood acute myeloid leukemia based on survival analysis in a cancer referral hospital from Perú.基于秘鲁某癌症转诊医院生存分析的儿童急性髓细胞白血病细胞遗传学危险分组。
Biomedica. 2021 Jun 29;41(2):302-313. doi: 10.7705/biomedica.5747.
3
Treatment of acute myeloid leukemia in children: A practical perspective.
儿童急性髓系白血病的治疗:实用观点。
Pediatr Blood Cancer. 2021 Jul;68(7):e28979. doi: 10.1002/pbc.28979. Epub 2021 Apr 12.
4
Clinical significance of RAS pathway alterations in pediatric acute myeloid leukemia.RAS 通路改变在儿童急性髓系白血病中的临床意义。
Haematologica. 2022 Mar 1;107(3):583-592. doi: 10.3324/haematol.2020.269431.
5
Acute Myeloid Leukemia in Children: Emerging Paradigms in Genetics and New Approaches to Therapy.儿童急性髓细胞白血病:遗传学的新兴范例和治疗的新方法。
Curr Oncol Rep. 2021 Jan 13;23(2):16. doi: 10.1007/s11912-020-01009-3.
6
Profiling Mutations in Mexican Acute Myeloid Leukemia Pediatric Patients: Impact on Overall Survival.墨西哥急性髓系白血病儿科患者的突变分析:对总生存期的影响
Front Pediatr. 2020 Sep 16;8:586. doi: 10.3389/fped.2020.00586. eCollection 2020.
7
Panel-based next-generation sequencing facilitates the characterization of childhood acute myeloid leukemia in clinical settings.基于基因检测板的下一代测序有助于在临床环境中对儿童急性髓系白血病进行特征分析。
Biomed Rep. 2020 Nov;13(5):46. doi: 10.3892/br.2020.1353. Epub 2020 Aug 28.
8
Prospective evaluation of prognostic impact of KIT mutations on acute myeloid leukemia with RUNX1-RUNX1T1 and CBFB-MYH11.前瞻性评估 KIT 突变对伴有 RUNX1-RUNX1T1 和 CBFB-MYH11 的急性髓系白血病的预后影响。
Blood Adv. 2020 Jan 14;4(1):66-75. doi: 10.1182/bloodadvances.2019000709.
9
The molecular landscape of pediatric acute myeloid leukemia reveals recurrent structural alterations and age-specific mutational interactions.儿童急性髓系白血病的分子特征揭示了反复出现的结构改变和年龄特异性的突变相互作用。
Nat Med. 2018 Jan;24(1):103-112. doi: 10.1038/nm.4439. Epub 2017 Dec 11.
10
Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer: A Joint Consensus Recommendation of the Association for Molecular Pathology, American Society of Clinical Oncology, and College of American Pathologists.癌症序列变异解读与报告的标准和指南:分子病理学协会、美国临床肿瘤学会和美国病理学家学会联合共识推荐
J Mol Diagn. 2017 Jan;19(1):4-23. doi: 10.1016/j.jmoldx.2016.10.002.