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Adult acute myeloid leukemia with trisomy 11 as the sole abnormality is characterized by the presence of five distinct gene mutations: MLL-PTD, DNMT3A, U2AF1, FLT3-ITD and IDH2.

作者信息

Eisfeld A-K, Kohlschmidt J, Mrózek K, Blachly J S, Nicolet D, Kroll K, Orwick S, Carroll A J, Stone R M, de la Chapelle A, Byrd J C, Bloomfield C D

机构信息

The Ohio State University Comprehensive Cancer Center, Columbus, OH, USA.

Alliance for Clinical Trials in Oncology Statistics and Data Center, Mayo Clinic, Rochester, MN, USA.

出版信息

Leukemia. 2016 Nov;30(11):2254-2258. doi: 10.1038/leu.2016.196. Epub 2016 Jul 20.

DOI:10.1038/leu.2016.196
PMID:27435003
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5244485/
Abstract
摘要

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1
Adult acute myeloid leukemia with trisomy 11 as the sole abnormality is characterized by the presence of five distinct gene mutations: MLL-PTD, DNMT3A, U2AF1, FLT3-ITD and IDH2.以11号染色体三体为唯一异常的成人急性髓系白血病的特征是存在五种不同的基因突变：MLL-PTD、DNMT3A、U2AF1、FLT3-ITD和IDH2。
Leukemia. 2016 Nov;30(11):2254-2258. doi: 10.1038/leu.2016.196. Epub 2016 Jul 20.
2
High frequency of additional gene mutations in acute myeloid leukemia with MLL partial tandem duplication: DNMT3A mutation is associated with poor prognosis.伴有MLL部分串联重复的急性髓系白血病中额外基因突变的高频率：DNMT3A突变与预后不良相关。
Oncotarget. 2015 Oct 20;6(32):33217-25. doi: 10.18632/oncotarget.5202.
3
Mutations of the epigenetics-modifying gene (DNMT3a, TET2, IDH1/2) at diagnosis may induce FLT3-ITD at relapse in de novo acute myeloid leukemia.在初发急性髓系白血病中，诊断时表观遗传学修饰基因（DNMT3a、TET2、IDH1/2）的突变可导致复发时出现 FLT3-ITD。
Leukemia. 2013 Apr;27(5):1044-52. doi: 10.1038/leu.2012.317. Epub 2012 Nov 8.
4
Trisomy 11 in myeloid malignancies is associated with internal tandem duplication of both MLL and FLT3 genes.髓系恶性肿瘤中的11号染色体三体与MLL和FLT3基因的内部串联重复有关。
Haematologica. 2005 Feb;90(2):262-4.
5
Diagnosis and relapse: cytogenetically normal acute myelogenous leukemia without FLT3-ITD or MLL-PTD.诊断与复发：无FLT3内部串联重复或MLL部分串联重复的细胞遗传学正常的急性髓系白血病
Leukemia. 2017 Mar;31(3):762-766. doi: 10.1038/leu.2016.343. Epub 2016 Nov 24.
6
FLT3-ITD and MLL-PTD influence the expression of MDR-1, MRP-1, and BCRP mRNA but not LRP mRNA assessed with RQ-PCR method in adult acute myeloid leukemia.FLT3-ITD 和 MLL-PTD 通过 RQ-PCR 方法评估对成人急性髓系白血病中 MDR-1、MRP-1 和 BCRP mRNA 的表达有影响，但对 LRP mRNA 无影响。
Ann Hematol. 2014 Apr;93(4):577-93. doi: 10.1007/s00277-013-1898-7. Epub 2013 Sep 13.
7
Eradicating acute myeloid leukemia in a Mll(PTD/wt):Flt3(ITD/wt) murine model: a path to novel therapeutic approaches for human disease.在 Mll(PTD/wt):Flt3(ITD/wt) 鼠模型中消除急性髓系白血病：针对人类疾病的新型治疗方法的途径。
Blood. 2013 Nov 28;122(23):3778-83. doi: 10.1182/blood-2013-06-507426. Epub 2013 Oct 1.
8
Mll partial tandem duplication and Flt3 internal tandem duplication in a double knock-in mouse recapitulates features of counterpart human acute myeloid leukemias.Mll 部分串联重复和 Flt3 内部串联重复在双敲入小鼠中重现了相应人类急性髓系白血病的特征。
Blood. 2012 Aug 2;120(5):1130-6. doi: 10.1182/blood-2012-03-415067. Epub 2012 Jun 6.
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EZH2, new diagnosis and prognosis marker in acute myeloid leukemia patients.EZH2，急性髓系白血病患者的新诊断和预后标志物。
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Clinical Effect of Combined Mutations in DNMT3A, FLT3-ITD, and NPM1 Among Egyptian Acute Myeloid Leukemia Patients.埃及急性髓系白血病患者中 DNMT3A、FLT3-ITD 和 NPM1 联合突变的临床效果。
Clin Lymphoma Myeloma Leuk. 2019 Jun;19(6):e281-e290. doi: 10.1016/j.clml.2019.02.001. Epub 2019 Feb 14.

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Detection of Partial Tandem Duplication by Optical Genome Mapping in Myeloid Neoplasms: Associated Cytogenetics, Gene Mutations, Treatment Responses, and Patient Outcomes.通过光学基因组图谱检测髓系肿瘤中的部分串联重复：相关细胞遗传学、基因突变、治疗反应及患者预后
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Framework of clonal mutations concurrent with WT1 mutations in adults with acute myeloid leukemia: Alliance for Clinical Trials in Oncology study.成人急性髓性白血病中与WT1突变同时存在的克隆性突变框架：肿瘤临床试验联盟研究
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本文引用的文献

1
High frequency of additional gene mutations in acute myeloid leukemia with MLL partial tandem duplication: DNMT3A mutation is associated with poor prognosis.伴有MLL部分串联重复的急性髓系白血病中额外基因突变的高频率：DNMT3A突变与预后不良相关。
Oncotarget. 2015 Oct 20;6(32):33217-25. doi: 10.18632/oncotarget.5202.
2
Isolated trisomy 13 defines a homogeneous AML subgroup with high frequency of mutations in spliceosome genes and poor prognosis.孤立性 13 三体定义了一个具有高频率剪接体基因突变和不良预后的同质 AML 亚组。
Blood. 2014 Aug 21;124(8):1304-11. doi: 10.1182/blood-2013-12-540716. Epub 2014 Jun 12.
3
Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia.
TP-0903 Is Active in Preclinical Models of Acute Myeloid Leukemia with Mutation/Deletion.
TP-0903在伴有突变/缺失的急性髓系白血病临床前模型中具有活性。
Cancers (Basel). 2022 Dec 21;15(1):29. doi: 10.3390/cancers15010029.
4
BMX kinase mediates gilteritinib resistance in FLT3-mutated AML through microenvironmental factors.BMX 激酶通过微环境因素介导 FLT3 突变型 AML 对吉特替尼的耐药性。
Blood Adv. 2022 Sep 13;6(17):5049-5060. doi: 10.1182/bloodadvances.2022007952.
5
Next Generation Cytogenetics in Myeloid Hematological Neoplasms: Detection of CNVs and Translocations.髓系血液肿瘤中的新一代细胞遗传学：拷贝数变异和易位的检测
Cancers (Basel). 2021 Jun 15;13(12):3001. doi: 10.3390/cancers13123001.
6
Large-Scale Identification of Clonal Hematopoiesis and Mutations Recurrent in Blood Cancers.大规模鉴定血液癌症中的克隆性造血和反复出现的突变。
Blood Cancer Discov. 2021 May;2(3):226-237. doi: 10.1158/2643-3230.BCD-20-0094. Epub 2021 Mar 3.
7
BCOR gene alterations in hematologic diseases.BCOR 基因改变与血液系统疾病。
Blood. 2021 Dec 16;138(24):2455-2468. doi: 10.1182/blood.2021010958.
8
Isocitrate Dehydrogenase Mutations in Myelodysplastic Syndromes and in Acute Myeloid Leukemias.骨髓增生异常综合征和急性髓系白血病中的异柠檬酸脱氢酶突变
Cancers (Basel). 2020 Aug 26;12(9):2427. doi: 10.3390/cancers12092427.
9
Isolated trisomy 11 in patients with acute myeloid leukemia - is the prognosis not as grim as previously thought?急性髓系白血病患者中孤立性11号染色体三体——预后是否不像之前认为的那么严峻？
Leuk Lymphoma. 2020 Sep;61(9):2254-2257. doi: 10.1080/10428194.2020.1755858. Epub 2020 Apr 26.
10
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.
成人新发急性髓系白血病的基因组和表观基因组图谱。
N Engl J Med. 2013 May 30;368(22):2059-74. doi: 10.1056/NEJMoa1301689. Epub 2013 May 1.
4
Spliceosomal gene mutations are frequent events in the diverse mutational spectrum of chronic myelomonocytic leukemia but largely absent in juvenile myelomonocytic leukemia.剪接体基因突变在慢性粒单核细胞白血病的多种突变谱中是常见事件，但在幼年型粒单核细胞白血病中基本不存在。
Haematologica. 2013 Jan;98(1):107-13. doi: 10.3324/haematol.2012.064048. Epub 2012 Jul 6.
5
Recurrent mutations in the U2AF1 splicing factor in myelodysplastic syndromes.骨髓增生异常综合征中 U2AF1 剪接因子的反复突变。
Nat Genet. 2011 Dec 11;44(1):53-7. doi: 10.1038/ng.1031.
6
Trisomy 11 as an isolated abnormality in acute myeloid leukemia is associated with unfavorable prognosis but not with an NPM1 or KIT mutation.11号染色体三体作为急性髓系白血病中的一种孤立异常与不良预后相关，但与核仁磷酸蛋白1（NPM1）或原癌基因c-KIT（KIT）突变无关。
Int J Clin Exp Pathol. 2011 Apr;4(4):371-7. Epub 2011 Apr 25.
7
Refinement of cytogenetic classification in acute myeloid leukemia: determination of prognostic significance of rare recurring chromosomal abnormalities among 5876 younger adult patients treated in the United Kingdom Medical Research Council trials.在英国医学研究理事会试验中治疗的 5876 例年轻成年患者中，对罕见重现染色体异常进行细胞遗传学分类的细化：确定其预后意义。
Blood. 2010 Jul 22;116(3):354-65. doi: 10.1182/blood-2009-11-254441. Epub 2010 Apr 12.
8
Trisomy 11: prevalence among 22,403 unique patient cytogenetic studies and clinical correlates.11三体：22403例独特患者细胞遗传学研究中的患病率及临床相关性。
Leukemia. 2010 May;24(5):1092-4. doi: 10.1038/leu.2010.51. Epub 2010 Apr 1.
9
The MLL partial tandem duplication: evidence for recessive gain-of-function in acute myeloid leukemia identifies a novel patient subgroup for molecular-targeted therapy.MLL部分串联重复：急性髓系白血病中隐性功能获得的证据确定了分子靶向治疗的一个新患者亚组。
Blood. 2005 Jul 1;106(1):345-52. doi: 10.1182/blood-2005-01-0204. Epub 2005 Mar 17.
10
Comparative analysis of MLL partial tandem duplication and FLT3 internal tandem duplication mutations in 956 adult patients with acute myeloid leukemia.956例成年急性髓系白血病患者中MLL部分串联重复和FLT3内部串联重复突变的比较分析
Genes Chromosomes Cancer. 2003 Jul;37(3):237-51. doi: 10.1002/gcc.10219.