Gene Editing Center, School of Life Science and Technology, ShanghaiTech University, 393 Middle Huaxia Road, Shanghai, 201210, China.
Shanghai Clinical Research and Trial Center, Shanghai, 201210, China.
Adv Sci (Weinh). 2024 Mar;11(12):e2306499. doi: 10.1002/advs.202306499. Epub 2024 Jan 16.
EZH2 is the catalytic subunit of the histone methyltransferase Polycomb Repressive Complex 2 (PRC2), and its somatic activating mutations drive lymphoma, particularly the germinal center B-cell type. Although PRC2 inhibitors, such as tazemetostat, have demonstrated anti-lymphoma activity in patients, the clinical efficacy is not limited to EZH2-mutant lymphoma. In this study, Activin A Receptor Type 1 (ACVR1), a type I Bone Morphogenetic Protein (BMP) receptor, is identified as critical for the anti-lymphoma efficacy of PRC2 inhibitors through a whole-genome CRISPR screen. BMP6, BMP7, and ACVR1 are repressed by PRC2-mediated H3K27me3, and PRC2 inhibition upregulates their expression and signaling in cell and patient-derived xenograft models. Through BMP-ACVR1 signaling, PRC2 inhibitors robustly induced cell cycle arrest and B cell lineage differentiation in vivo. Remarkably, blocking ACVR1 signaling using an inhibitor or genetic depletion significantly compromised the in vitro and in vivo efficacy of PRC2 inhibitors. Furthermore, high levels of BMP6 and BMP7, along with ACVR1, are associated with longer survival in lymphoma patients, underscoring the clinical relevance of this study. Altogether, BMP-ACVR1 exhibits anti-lymphoma function and represents a critical PRC2-repressed pathway contributing to the efficacy of PRC2 inhibitors.
EZH2 是组蛋白甲基转移酶 Polycomb 抑制复合物 2(PRC2)的催化亚基,其体细胞激活突变可驱动淋巴瘤,特别是生发中心 B 细胞型淋巴瘤。尽管 PRC2 抑制剂(如 tazemetostat)已在患者中显示出抗淋巴瘤活性,但临床疗效并不仅限于 EZH2 突变型淋巴瘤。在这项研究中,通过全基因组 CRISPR 筛选发现,激活素 A 受体 1(ACVR1),一种 I 型骨形态发生蛋白(BMP)受体,是 PRC2 抑制剂抗淋巴瘤疗效的关键。BMP6、BMP7 和 ACVR1 被 PRC2 介导的 H3K27me3 抑制,PRC2 抑制可上调其在细胞和患者来源异种移植模型中的表达和信号转导。通过 BMP-ACVR1 信号通路,PRC2 抑制剂在体内强烈诱导细胞周期停滞和 B 细胞谱系分化。值得注意的是,使用抑制剂或基因敲除阻断 ACVR1 信号通路会显著降低 PRC2 抑制剂的体外和体内疗效。此外,BMP6 和 BMP7 水平较高,同时伴有 ACVR1,与淋巴瘤患者的生存时间延长相关,这突显了这项研究的临床相关性。总之,BMP-ACVR1 具有抗淋巴瘤功能,是 PRC2 抑制的关键途径,有助于 PRC2 抑制剂的疗效。