Chronic Lymphocytic Leukemia (CLL) is the most frequent type of leukemia in Western countries. In recent years, there have been important advances in the knowledge of molecular alterations that underlie the disease’s pathogenesis. Very heterogeneous prognostic subgroups have been identified by the mutational status of immunoglobulin heavy variable genes (IGVH), FISH analysis and molecular evaluation ofTP53mutations. Next-generation sequencing (NGS) technologies have provided a deeper characterization of the genomic and epigenomic landscape of CLL. New therapeutic targets have led to a progressive reduction of traditional chemoimmunotherapy in favor of specific biological agents. Furthermore, in the latest clinical trials, the minimal residual disease (MRD) has emerged as a potent marker of outcome and a guide to treatment duration. This review focuses on recent insights into the understanding of CLL biology. We also consider the translation of these findings into the development of risk-adapted and targeted therapeutic approaches.
慢性淋巴细胞白血病(CLL)是西方国家最常见的白血病类型。近年来,对该疾病发病机制相关的分子改变研究取得了重要进展。通过免疫球蛋白重链可变区基因(IGVH)突变状态、荧光原位杂交技术分析以及TP53基因突变的分子评估,已识别出高度异质性的预后亚群。新一代测序技术为CLL的基因组和表观基因组特征提供了更深入的解析。新型治疗靶点的发现促使传统化学免疫疗法逐渐减少,特异性生物制剂的应用日益广泛。此外,在最新临床试验中,微小残留病(MRD)已成为评估预后的重要标志物和治疗时长的指导指标。本综述重点探讨CLL生物学机制的最新研究进展,并分析这些发现如何推动风险适应性和靶向治疗策略的发展。