Kulis Marta, Martin-Subero Jose Ignacio
Institut d'Investigacions Biomèdiques August Pi I Sunyer (IDIBAPS), Barcelona, Spain.
Institució Catalana de Recerca i Estudis Avançats (ICREA), Barcelona, Spain.
Br J Haematol. 2023 Feb;200(3):280-290. doi: 10.1111/bjh.18465. Epub 2022 Sep 19.
Chronic lymphocytic leukaemia (CLL) is not only characterised by driver genetic alterations but by extensive epigenetic changes. Over the last decade, epigenomic studies have described the DNA methylome, chromatin accessibility, histone modifications and the three-dimensional (3D) genome architecture of CLL. Beyond its regulatory role, the DNA methylome contains imprints of the cellular origin and proliferative history of CLL cells. These two aspects are strong independent prognostic factors. Integrative analyses of chromatin marks have uncovered novel regulatory elements and altered transcription factor networks as non-genetic means mediating gene deregulation in CLL. Additionally, CLL cells display a disease-specific pattern of 3D genome interactions. From the technological perspective, we are currently witnessing a transition from bulk omics to single-cell analyses. This review aims at summarising the major findings from the epigenomics field as well as providing a prospect of the present and future of single-cell analyses in CLL.
慢性淋巴细胞白血病(CLL)不仅以驱动基因改变为特征,还具有广泛的表观遗传学变化。在过去十年中,表观基因组学研究描述了CLL的DNA甲基化组、染色质可及性、组蛋白修饰和三维(3D)基因组结构。除了其调节作用外,DNA甲基化组还包含CLL细胞的细胞起源和增殖历史印记。这两个方面是强有力的独立预后因素。对染色质标记的综合分析揭示了新的调控元件,并改变了转录因子网络,作为介导CLL基因失调的非遗传手段。此外,CLL细胞表现出疾病特异性的3D基因组相互作用模式。从技术角度来看,我们目前正目睹从整体组学向单细胞分析的转变。本综述旨在总结表观基因组学领域的主要发现,并展望CLL单细胞分析的现状和未来。