A novel type of mutation characterized by multiple internal tandem repeats in a case of cytogenetically normal acute myeloid leukemia.
作者信息
Duployez Nicolas, Chebrek Lydia, Helevaut Nathalie, Fournier Elise, Bemba Maxime, Caillault Aurélie, Geffroy Sandrine, Preudhomme Claude
机构信息
CHU Lille, Laboratory of Hematology
Univ. Lille, INSERM, UMR-S 1172.
出版信息
Haematologica. 2018 Dec;103(12):e575-e577. doi: 10.3324/haematol.2018.190959. Epub 2018 Jun 14.
Abstract
摘要
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A novel type of mutation characterized by multiple internal tandem repeats in a case of cytogenetically normal acute myeloid leukemia.在一例细胞遗传学正常的急性髓系白血病中，一种以多个内部串联重复为特征的新型突变。
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NPM1 mutations are more stable than FLT3 mutations during the course of disease in patients with acute myeloid leukemia.在急性髓系白血病患者的病程中，NPM1突变比FLT3突变更稳定。
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Internal tandem duplications of the FLT3 and MLL genes are mainly observed in atypical cases of therapy-related acute myeloid leukemia with a normal karyotype and are unrelated to type of previous therapy.FLT3和MLL基因的内部串联重复主要在核型正常的治疗相关急性髓系白血病非典型病例中观察到，且与既往治疗类型无关。
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When the good go bad: Mutant NPM1 in acute myeloid leukemia.好变坏：急性髓系白血病中的突变型 NPM1。
Blood Rev. 2018 May;32(3):167-183. doi: 10.1016/j.blre.2017.11.001. Epub 2017 Nov 4.
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Coexisting and cooperating mutations in NPM1-mutated acute myeloid leukemia.NPM1 突变型急性髓系白血病中的共存及协同突变
Leuk Res. 2017 May;56:7-12. doi: 10.1016/j.leukres.2017.01.027. Epub 2017 Jan 23.
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Diagnosis and management of AML in adults: 2017 ELN recommendations from an international expert panel.成人急性髓系白血病的诊断与管理：2017年国际专家小组的欧洲白血病网络（ELN）建议
Blood. 2017 Jan 26;129(4):424-447. doi: 10.1182/blood-2016-08-733196. Epub 2016 Nov 28.
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The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia.2016 年版世界卫生组织髓系肿瘤和急性白血病分类。
Blood. 2016 May 19;127(20):2391-405. doi: 10.1182/blood-2016-03-643544. Epub 2016 Apr 11.
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Molecular subtypes of NPM1 mutations have different clinical profiles, specific patterns of accompanying molecular mutations and varying outcomes in intermediate risk acute myeloid leukemia.NPM1突变的分子亚型在中危急性髓系白血病中具有不同的临床特征、伴随分子突变的特定模式及不同的预后。
Haematologica. 2016 Feb;101(2):e55-8. doi: 10.3324/haematol.2015.133819. Epub 2015 Oct 15.
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LocNES: a computational tool for locating classical NESs in CRM1 cargo proteins.LocNES：一种用于在CRM1货物蛋白中定位经典核输出信号的计算工具。
Bioinformatics. 2015 May 1;31(9):1357-65. doi: 10.1093/bioinformatics/btu826. Epub 2014 Dec 15.
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Clinical impact of gene mutations and lesions detected by SNP-array karyotyping in acute myeloid leukemia patients in the context of gemtuzumab ozogamicin treatment: results of the ALFA-0701 trial.在吉妥珠单抗奥唑米星治疗背景下，单核苷酸多态性阵列核型分析检测到的基因突变和病变对急性髓性白血病患者的临床影响：ALFA-0701试验结果
Oncotarget. 2014 Feb 28;5(4):916-32. doi: 10.18632/oncotarget.1536.
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Molecular and alternative methods for diagnosis of acute myeloid leukemia with mutated NPM1: flexibility may help.用于诊断伴有NPM1突变的急性髓系白血病的分子及替代方法：灵活性可能有所帮助。
Haematologica. 2010 Apr;95(4):529-34. doi: 10.3324/haematol.2009.017822.
9
Cooperating gene mutations in acute myeloid leukemia: a review of the literature.急性髓系白血病中的协同基因突变：文献综述
Leukemia. 2008 May;22(5):915-31. doi: 10.1038/leu.2008.19. Epub 2008 Feb 21.
10
Acute myeloid leukemia carrying cytoplasmic/mutated nucleophosmin (NPMc+ AML): biologic and clinical features.携带细胞质/突变型核仁磷酸蛋白的急性髓系白血病（NPMc+ AML）：生物学和临床特征
Blood. 2007 Feb 1;109(3):874-85. doi: 10.1182/blood-2006-07-012252. Epub 2006 Sep 28.
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