Cancer Epigenetics Group, Josep Carreras Leukaemia Research Institute (IJC), Badalona, Barcelona, Catalonia, Spain.
Genomics Unit, Josep Carreras Leukaemia Research Institute (IJC), Badalona, Barcelona, Catalonia, Spain.
Exp Hematol. 2021 Jun;98:1-13. doi: 10.1016/j.exphem.2021.05.001. Epub 2021 May 9.
In recent years, single-cell technologies have emerged as breakthrough techniques that enable the characterization of hematopoietic cell populations of normal and malignant tissue samples and will be combined in the near future with bulk technologies, currently used in clinical practice, to improve diagnosis, prognosis, and the search for novel molecular targets. These single-cell methods have the advantage of not masking cell-to-cell variation features and involve the study of genetic, epigenetic, transcriptional, and proteomic landscapes from a single-cell perspective. Latest advances in this field have enabled the development of novel strategies that significantly increase both sensitivity and high throughput. In this review, we emphasize emerging techniques aimed at assessing individual or multiomic parameters at single-cell resolution and analyze how these technologies have helped us understand hematopoietic variability and identify unknown and/or rare subpopulations. We also summarize the impact of these single-cell profiling strategies on the characterization of cell diversity within the tumor and the clonal evolution of multiple hematological malignancies in samples from untreated and treated patients, which provide valuable information for diagnosis, prognosis, and future treatments and explain why current therapies may fail. However, despite these improvements, new challenges lie ahead.
近年来,单细胞技术已经成为突破性的技术,可以对正常和恶性组织样本中的造血细胞群体进行特征分析,并将在不久的将来与目前在临床实践中使用的批量技术相结合,以改善诊断、预后和寻找新的分子靶点。这些单细胞方法的优点是不会掩盖细胞间变异特征,并且从单细胞的角度研究遗传、表观遗传、转录和蛋白质组学景观。该领域的最新进展使开发新策略成为可能,这些策略显著提高了灵敏度和高通量。在这篇综述中,我们强调了旨在评估单个或多组学参数的新兴技术,分析这些技术如何帮助我们理解造血细胞的变异性,并鉴定未知的和/或罕见的亚群。我们还总结了这些单细胞分析策略对未治疗和治疗患者样本中肿瘤内细胞多样性和多种血液恶性肿瘤克隆进化的描述的影响,这些信息对于诊断、预后和未来的治疗具有重要意义,并解释了为什么目前的治疗方法可能会失败。然而,尽管取得了这些进展,但新的挑战仍在前方。