Chronic lymphocytic leukemia is a common disease in Western countries and has heterogeneous clinical behavior. The relevance of the genetic basis of the disease has come to the forefront recently, with genome-wide studies that have provided a comprehensive view of structural variants, somatic mutations, and different layers of epigenetic changes. The mutational landscape is characterized by relatively common copy number alterations, a few mutated genes occurring in 10-15% of cases, and a large number of genes mutated in a small number of cases. The epigenomic profile has revealed a marked reprogramming of regulatory regions in tumor cells compared with normal B cells. All of these alterations are differentially distributed in clinical and biological subsets of the disease, indicating that they may underlie the heterogeneous evolution of the disease. These global studies are revealing the molecular complexity of chronic lymphocytic leukemia and provide new perspectives that have helped to understand its pathogenic mechanisms and improve the clinical management of patients.

中文翻译：

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慢性淋巴细胞白血病的基因组和表观基因组改变。

慢性淋巴细胞性白血病在西方国家是一种常见疾病，临床行为多样。该疾病的遗传基础的相关性最近已成为最前沿，全基因组研究提供了结构变异，体细胞突变和表观遗传变化的不同层次的全面视图。突变态的特征是相对常见的拷贝数变化，少数突变基因发生在10％至15％的情况下以及大量基因在少数情况下发生了突变。表观基因组图谱显示与正常B细胞​​相比，肿瘤细胞中的调节区域有明显的重编程。所有这些变化均在疾病的临床和生物学亚组中差异分布，表明它们可能是疾病异质性进化的基础。这些全球研究揭示了慢性淋巴细胞性白血病的分子复杂性，并提供了有助于理解其致病机制和改善患者临床管理的新观点。