Patterns of Chromosomal Aberrations in Solid Tumors.
Patterns of Chromosomal Aberrations in Solid Tumors.
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DOI：
10.1007/978-3-319-20291-4_6
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发表时间：
2015
期刊：
影响因子：
--
通讯作者：
Camps J
中科院分区：
文献类型：
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作者：
Grade M;Difilippantonio MJ;Camps J
染色体异常是实体瘤的定义特征。这种细胞遗传学改变主要分为染色体结构畸变和拷贝数改变，从而引起非整倍体核型。越来越多的检测到这些遗传变化允许特定的肿瘤实体和相关的基因表达模式的描述。事实上，总基因组拷贝数变化的肿瘤特异性景观，包括整个染色体臂和染色体的非整倍性，导致癌细胞转录组的全球失调。此外，细胞遗传学异常的分子表征提供了对肿瘤发生机制的见解，并且在少数情况下，导致了有效诊断和预后工具的临床实施，以及针对特定遗传异常的治疗策略。
Chromosomal abnormalities are a defining feature of solid tumors. Such cytogenetic alterations are mainly classified into structural chromosomal aberrations and copy number alterations, giving rise to aneuploid karyotypes. The increasing detection of these genetic changes allowed the description of specific tumor entities and the associated patterns of gene expression. In fact, tumor-specific landscapes of gross genomic copy number changes, including aneuploidies of entire chromosome arms and chromosomes result in a global deregulation of the transcriptome of cancer cells. Furthermore, the molecular characterization of cytogenetic abnormalities has provided insights into the mechanisms of tumorigenesis and has, in a few instances, led to the clinical implementation of effective diagnostic and prognostic tools, as well as treatment strategies that target a specific genetic abnormality.