Wellcome Trust - Medical Research Council Cambridge Stem Cell Institute, Cambridge, UK.
National Health Service Blood and Transplant, Cambridge, UK.
Nat Rev Cancer. 2020 May;20(5):285-298. doi: 10.1038/s41568-020-0245-2. Epub 2020 Feb 28.
Haematological malignancies were previously thought to be driven solely by genetic or epigenetic lesions within haematopoietic cells. However, the niches that maintain and regulate daily production of blood and immune cells are now increasingly being recognized as having an important role in the pathogenesis and chemoresistance of haematological malignancies. Within haematopoietic cells, the accumulation of a small number of recurrent mutations initiates malignancy. Concomitantly, specific alterations of the niches, which support haematopoietic stem cells and their progeny, can act as predisposition events, facilitating mutant haematopoietic cell survival and expansion as well as contributing to malignancy progression and providing protection of malignant cells from chemotherapy, ultimately leading to relapse. In this Perspective, we summarize our current understanding of the composition and function of the specialized haematopoietic niches of the bone marrow during health and disease. We discuss disease mechanisms (rather than malignancy subtypes) to provide a comprehensive description of key niche-associated pathways that are shared across multiple haematological malignancies. These mechanisms include primary driver mutations in bone marrow niche cells, changes associated with increased hypoxia, angiogenesis and inflammation as well as metabolic reprogramming by stromal niche cells. Consequently, remodelling of bone marrow niches can facilitate immune evasion and activation of survival pathways favouring malignant haematopoietic cell maintenance, defence against excessive reactive oxygen species and protection from chemotherapy. Lastly, we suggest guidelines for the handling and biobanking of patient samples and analysis of the niche to ensure that basic research identifying therapeutic targets can be more efficiently translated to the clinic. The hope is that integrating knowledge of how bone marrow niches contribute to haematological disease predisposition, initiation, progression and response to therapy into future clinical practice will likely improve the treatment of these disorders.
先前人们认为血液系统恶性肿瘤仅由造血细胞内的遗传或表观遗传损伤所驱动。然而,维持和调节血液和免疫细胞日常生成的龛位,现在越来越被认为在血液系统恶性肿瘤的发病机制和化疗耐药性中具有重要作用。在造血细胞内,少数反复出现的突变积累会引发恶性肿瘤。同时,龛位的特定改变,这些改变支持造血干细胞及其后代,可以作为易感性事件,促进突变造血细胞的存活和扩增,并促进恶性肿瘤的进展,为恶性细胞提供化疗保护,最终导致疾病复发。在本观点文章中,我们总结了目前对健康和疾病状态下骨髓中专门的造血龛位的组成和功能的理解。我们讨论了疾病机制(而不是恶性肿瘤亚型),以全面描述多个血液系统恶性肿瘤中共同存在的关键龛位相关途径。这些机制包括骨髓龛位细胞中的原发性驱动突变、与缺氧增加、血管生成和炎症相关的变化以及基质龛位细胞的代谢重编程。因此,骨髓龛位的重塑可以促进免疫逃逸和生存途径的激活,有利于恶性造血细胞的维持、防御过多的活性氧物质和防止化疗损伤。最后,我们提出了处理和保存患者样本以及分析龛位的指南,以确保确定治疗靶点的基础研究能够更有效地转化为临床实践。我们希望,将骨髓龛位如何促进血液系统疾病易感性、起始、进展和对治疗的反应的知识整合到未来的临床实践中,可能会改善这些疾病的治疗效果。