Department of Biochemistry and Molecular Biology I. Faculty of Sciences, University of Granada, Granada, Spain.
GENYO, Centre for Genomics and Oncological Research: Pfizer/University of Granada/Andalusian Regional Government, PTS Granada, Granada, Spain.
Mol Cancer. 2023 Feb 21;22(1):39. doi: 10.1186/s12943-023-01736-8.
Hematological malignancies are a highly heterogeneous group of diseases with varied molecular and phenotypical characteristics. SWI/SNF (SWItch/Sucrose Non-Fermentable) chromatin remodeling complexes play significant roles in the regulation of gene expression, being essential for processes such as cell maintenance and differentiation in hematopoietic stem cells. Furthermore, alterations in SWI/SNF complex subunits, especially in ARID1A/1B/2, SMARCA2/4, and BCL7A, are highly recurrent across a wide variety of lymphoid and myeloid malignancies. Most genetic alterations cause a loss of function of the subunit, suggesting a tumor suppressor role. However, SWI/SNF subunits can also be required for tumor maintenance or even play an oncogenic role in certain disease contexts. The recurrent alterations of SWI/SNF subunits highlight not only the biological relevance of SWI/SNF complexes in hematological malignancies but also their clinical potential. In particular, increasing evidence has shown that mutations in SWI/SNF complex subunits confer resistance to several antineoplastic agents routinely used for the treatment of hematological malignancies. Furthermore, mutations in SWI/SNF subunits often create synthetic lethality relationships with other SWI/SNF or non-SWI/SNF proteins that could be exploited therapeutically. In conclusion, SWI/SNF complexes are recurrently altered in hematological malignancies and some SWI/SNF subunits may be essential for tumor maintenance. These alterations, as well as their synthetic lethal relationships with SWI/SNF and non-SWI/SNF proteins, may be pharmacologically exploited for the treatment of diverse hematological cancers.
血液系统恶性肿瘤是一组高度异质性疾病,具有不同的分子和表型特征。SWI/SNF(Switch/Sucrose Non-Fermentable)染色质重塑复合物在基因表达调控中发挥着重要作用,对于造血干细胞的细胞维持和分化等过程至关重要。此外,SWI/SNF 复合物亚基的改变,特别是 ARID1A/1B/2、SMARCA2/4 和 BCL7A 的改变,在广泛的淋巴和髓系恶性肿瘤中高度频繁。大多数遗传改变导致亚基功能丧失,提示其作为肿瘤抑制因子的作用。然而,SWI/SNF 亚基也可能是肿瘤维持所必需的,甚至在某些疾病情况下发挥致癌作用。SWI/SNF 亚基的反复改变不仅突出了 SWI/SNF 复合物在血液系统恶性肿瘤中的生物学相关性,也突出了其临床潜力。特别是,越来越多的证据表明,SWI/SNF 复合物亚基的突变赋予了对几种用于治疗血液系统恶性肿瘤的常规抗肿瘤药物的耐药性。此外,SWI/SNF 亚基的突变经常与其他 SWI/SNF 或非 SWI/SNF 蛋白产生合成致死关系,这些关系可能具有治疗潜力。总之,SWI/SNF 复合物在血液系统恶性肿瘤中经常发生改变,一些 SWI/SNF 亚基可能对肿瘤维持至关重要。这些改变及其与 SWI/SNF 和非 SWI/SNF 蛋白的合成致死关系,可能为治疗各种血液癌症提供药理学上的利用。