急性髓系白血病的突变景观:概述和预后影响。

IF 3.3 3区 医学 Q1 MEDICINE, GENERAL & INTERNAL
Jeff Chen, Fares Hassan, Carlos A Tirado
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引用次数: 0

摘要

急性髓系白血病(AML)占儿童白血病病例的15-20%,占成人白血病病例的35%,因此对该疾病预后因素的深入了解是诊断和治疗的一个重要方面。AML患者的突变谱是其预后的重要预测因子。辨别当前突变、共突变组合和单个基因突变的变异需要适当的研究和分析,以确定它们对患者预后的影响。在不同的患者队列中不断调查和分析常见和罕见的突变,带来新的见解,导致分类,治疗和诊断的变化。例如,NPM1、FLT3和DNMT3A突变是三种常见的驱动突变,在儿童和成人患者中具有高发生率,预后和治疗方法不同。与ASXL1和TP53患者一样,伴有MECOM的AML患者面临着特别可怕的结果,这使得他们的突变分析对预后的评估至关重要。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

A Mutational Landscape in Acute Myeloid Leukemia: Overview and Prognostic Impacts.

A Mutational Landscape in Acute Myeloid Leukemia: Overview and Prognostic Impacts.

A Mutational Landscape in Acute Myeloid Leukemia: Overview and Prognostic Impacts.

A Mutational Landscape in Acute Myeloid Leukemia: Overview and Prognostic Impacts.

Acute myeloid leukemia (AML) comprises 15-20% of pediatric leukemia and 35% of adult leukemia cases, requiring insights into prognostic factors of this disease to be an important aspect of diagnosis and treatment. A mutational profile of patients with AML is a crucial predictor of their outcome. Discernment of present mutations, co-mutation combinations, and variations in the mutations in a single gene requires proper research and analysis to determine their impact on a patient's prognosis. Common and infrequent mutations are continuously investigated and analyzed in different patient cohorts, bringing new insights that lead to changes in classifications, treatments, and diagnoses. For instance, mutations in NPM1, FLT3, and DNMT3A, three frequent driver mutations, have high incident rates with differing prognoses and treatments in pediatric and adult patients. AML patients with MECOM face particularly dire outcomes, as well as those with ASXL1 and TP53, making their mutational analysis crucial for review in developing a prognosis.

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来源期刊
Diagnostics
Diagnostics Biochemistry, Genetics and Molecular Biology-Clinical Biochemistry
CiteScore
4.70
自引率
8.30%
发文量
2699
审稿时长
19.64 days
期刊介绍: Diagnostics (ISSN 2075-4418) is an international scholarly open access journal on medical diagnostics. It publishes original research articles, reviews, communications and short notes on the research and development of medical diagnostics. There is no restriction on the length of the papers. Our aim is to encourage scientists to publish their experimental and theoretical research in as much detail as possible. Full experimental and/or methodological details must be provided for research articles.
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