Mutation profiling and prediction of outcome in acute myeloid leukemia

Fabiana Ostronoff; Soheil Meshinchi; Elihu H Estey

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Mutation profiling and prediction of outcome in acute myeloid leukemia

机译：急性髓性白血病的突变谱和结果预测

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Acute myeloid leukemia (AML) is a heterogeneous disease characterized by accumulation of somatically acquired genetic alterations in hematopoietic progenitor cells. Cytogenetic analysis has been used for more than three decades and has allowed classifications of AML patients into distinct subsets that differ in biologic and prognostic characteristics [1,2]. Patients with cytogenetic profiles associated with 'favorable risk' (i.e., PML-RARA, RUNX1-RUNX1T1 or MYH11-CBFB) have relatively good outcomes without allogeneic hematopoietic cell transplantation (HCT) whereas patients with 'unfavorable risk' cytogenetics (e.g., at least three cytogenetic abnormalities) are thought to require HCT during the first remission to improve their outcome [3-5].

机译：急性髓细胞性白血病（AML）是一种异质性疾病，其特征是在造血祖细胞中积累了体细胞获得的遗传改变。细胞遗传学分析已经使用了三十多年，可以将AML患者分为不同的亚群，这些亚群的生物学和预后特征不同[1,2]。具有与“有利风险”相关的细胞遗传学特征的患者（即PML-RARA，RUNX1-RUNX1T1或MYH11-CBFB）在没有同种异体造血细胞移植（HCT）的情况下具有相对较好的预后，而具有“不利风险”细胞遗传学的患者（例如，至少三种细胞遗传学异常）被认为需要在首次缓解期间进行HCT才能改善其预后[3-5]。

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《International journal of hematologic oncology.》 |2014年第2期|共4页
作者
Fabiana Ostronoff; Soheil Meshinchi; Elihu H Estey;
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1. Comparison of mutational profiles and clinical outcomes in patients with acute myeloid leukemia with mutated RUNX1 versus acute myeloid leukemia with myelodysplasia-related changes with mutated RUNX1 [J] . Nguyen Lynh, Zhang Xiaohui, Roberts Evans, Leukemia and lymphoma . 2020,第5a6期

机译：突变骨髓白血病患者突变谱和临床结果的比较，突变腹泻与急性髓性白血病与骨髓癌相关的突变突变相关的变化
2. ASXL1 mutations define a subgroup of patients with acute myeloid leukemia with distinct gene expression profile and poor prognosis: a meta-analysis of 3311 adult patients with acute myeloid leukemia [J] . Shivarov Velizar, Gueorguieva Ralitza, Ivanova Milena, Leukemia and lymphoma . 2015,第6期

机译：ASXL1突变定义了具有明显基因表达谱和预后不良的急性髓细胞性白血病患者亚组：一项对3311例急性髓性白血病成年患者的荟萃分析
3. Double CEBPA mutations, but not single CEBPA mutations, define a subgroup of acute myeloid leukemia with a distinctive gene expression profile that is uniquely associated with a favorable outcome. [J] . Wouters BJ, Lowenberg B, Erpelinck-Verschueren CA, Blood: The Journal of the American Society of Hematology . 2009,第13期

机译：双重CEBPA突变而非单一CEBPA突变定义了急性髓细胞性白血病的一个亚组，其独特的基因表达谱与良好的预后相关。
4. Integration of Gene Expression and DNA-methylation Profiles Improves Molecular Subtype Classification in Acute Myeloid Leukemia [C] . Erdogan Taskesen, Sepideh Babaei, Marcel J.T. Reinders, PRIB 2014. . 2014

机译：基因表达和DNA-甲基化型材的整合提高了急性髓鞘白血病中的分子亚型分类
5. Pharmacology Profiles of ALK and FLT3 Kinase Inhibitors against Non-Small-Cell Lung Cancer Cells and Acute Myeloid Leukemia Cells with Cancer Driver Mutations [D] . 森政道 2019

机译：ALK和FLT3激酶抑制剂对非小细胞肺癌细胞和急性髓系白血病细胞的癌症驱动突变的药理作用
6. Molecular subtypes of NPM1 mutations have different clinical profiles specific patterns of accompanying molecular mutations and varying outcomes in intermediate risk acute myeloid leukemia [O] . Tamara Alpermann, Susanne Schnittger, Christiane Eder, 2016

机译：NPM1突变的分子亚型具有不同的临床特征伴随的分子突变的特定模式以及中等风险的急性髓性白血病的不同结果
7. Comparison of mutational profiles and clinical outcomes in patients with acute myeloid leukemia with mutated RUNX1 versus acute myeloid leukemia with myelodysplasia-related changes with mutated RUNX1 [O] . Lynh Nguyen, Xiaohui Zhang, Evans Roberts, 2020

机译：突变骨髓白血病患者突变谱和临床结果的比较与突变髓性白血病与骨髓瓣相关变化的突变霉菌白血病与突变的runx1相关的变化

Mutation profiling and prediction of outcome in acute myeloid leukemia

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