Grade Marian, Difilippantonio Michael J, Camps Jordi
University Medical Center Göttingen, Göttingen, Germany.
National Cancer Institute, National Institutes of Health, Bethesda, Md, USA.
Recent Results Cancer Res. 2015;200:115-42. doi: 10.1007/978-3-319-20291-4_6.
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.
染色体异常是实体瘤的一个决定性特征。此类细胞遗传学改变主要分为染色体结构畸变和拷贝数改变,从而导致非整倍体核型。对这些基因变化的检测日益增多,使得特定肿瘤实体及其相关基因表达模式得以描述。事实上,总体基因组拷贝数变化的肿瘤特异性格局,包括整条染色体臂和染色体的非整倍体现象,导致癌细胞转录组的整体失调。此外,细胞遗传学异常的分子特征为肿瘤发生机制提供了见解,并且在一些情况下,促成了有效的诊断和预后工具以及针对特定基因异常的治疗策略的临床应用。