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.
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。
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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。
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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。
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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.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.
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