Chromosome aberrations, gene mutations and expression changes, and prognosis in adult acute myeloid leukemia.
Chromosome aberrations, gene mutations and expression changes, and prognosis in adult acute myeloid leukemia.
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DOI：
10.1182/asheducation-2006.1.169
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发表时间：
2006
期刊：
影响因子：
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通讯作者：
K. Mrózek;C. Bloomfield
中科院分区：
文献类型：
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作者：
K. Mrózek;C. Bloomfield
急性髓性白血病（AML）患者的治疗前临床特征和预后受到白血病细胞获得性遗传改变的强烈影响，这些遗传改变包括显微镜可检测到的染色体畸变以及越来越多的亚显微基因突变和基因表达变化。细胞遗传学研究结果将AML患者分为三大预后类别：有利，中等和不利。年轻成人患者和60岁或以上患者的细胞遗传学风险分类略有不同。在许多情况下，具有特定细胞遗传学发现的患者，例如，具有正常核型的那些或具有t（8;21）（q22;q22）或inv（16）（p13 q22）/t（16;16）（p13;q22）的那些[统称为核心结合因子（CBF）AML]可以基于特定基因突变或基因表达变化的存在或不存在而进一步细分为预后类别。重要的是，许多这些分子遗传改变构成了风险适应性治疗的潜在靶点。在这篇文章中，我们简要回顾了主要的细胞遗传学预后类别，并讨论了两个最大的细胞遗传学组的AML患者，即AML与正常核型和CBF AML的预后意义的分子遗传学研究结果。
Pretreatment clinical features and prognosis of patients with acute myeloid leukemia (AML) are strongly influenced by acquired genetic alterations in leukemic cells, which include microscopically detectable chromosome aberrations and, increasingly, submicroscopic gene mutations and changes in gene expression. Cytogenetic findings separate AML patients into three broad prognostic categories: favorable, intermediate and adverse. The cytogenetic-risk classifications differ somewhat for younger adult patients and those aged 60 years or older. In many instances, patients with specific cytogenetic findings, e.g., those with a normal karyotype or those with either t(8;21)(q22;q22) or inv(16)(p13q22)/t(16;16)(p13;q22) [collectively referred to as core-binding factor (CBF) AML] can be further subdivided into prognostic categories based on the presence or absence of particular gene mutations or changes in gene expression. Importantly, many of these molecular genetic alterations constitute potential targets for risk-adapted therapies. In this article, we briefly review major cytogenetic prognostic categories and discuss molecular genetic findings of prognostic significance in two of the largest cytogenetic groups of patients with AML, namely AML with a normal karyotype and CBF AML.