Tosello Valeria, Di Martino Ludovica, Papathanassiu Adonia E, Santa Silvia Dalla, Pizzi Marco, Mussolin Lara, Liu Jingjing, Van Vlierberghe Pieter, Piovan Erich
Basic and Translational Oncology Unit, Veneto Institute of Oncology IOV-IRCCS, Padua.
Department of Surgery, Oncology and Gastroenterology, University of Padua.
Haematologica. 2025 Feb 1;110(2):350-367. doi: 10.3324/haematol.2024.285552.
High levels of branched-chain amino acid (BCAA) transaminase 1 (BCAT1) have been associated with tumor aggressiveness and drug resistance in several cancer types. Nevertheless, the mechanistic role of BCAT1 in T-cell acute lymphoblastic leukemia (T-ALL) remains uncertain. We provide evidence that Bcat1 was over-expressed following NOTCH1-induced transformation of leukemic progenitors and that NOTCH1 directly controlled BCAT1 expression by binding to a BCAT1 promoter. Further, using a NOTCH1 gain-of-function retroviral model of T-ALL, mouse cells genetically deficient for Bcat1 showed defects in developing leukemia. In murine T-ALL cells, Bcat1 depletion or inhibition redirected leucine metabolism towards production of 3-hydroxy butyrate (3-HB), an endogenous histone deacetylase inhibitor. Consistently, BCAT1-depleted cells showed altered protein acetylation levels which correlated with a pronounced sensitivity to DNA damaging agents. In human NOTCH1-dependent leukemias, high expression levels of BCAT1 may predispose to worse prognosis. Therapeutically, BCAT1 inhibition specifically synergized with etoposide to eliminate tumors in patient-derived xenograft models suggesting that BCAT1 inhibitors may have a part to play in salvage protocols for refractory T-ALL.
在多种癌症类型中,高水平的支链氨基酸转氨酶1(BCAT1)与肿瘤侵袭性和耐药性相关。然而,BCAT1在T细胞急性淋巴细胞白血病(T-ALL)中的作用机制仍不明确。我们提供的证据表明,在NOTCH1诱导白血病祖细胞转化后,Bcat1表达上调,且NOTCH1通过与BCAT1启动子结合直接控制BCAT1的表达。此外,使用T-ALL的NOTCH1功能获得性逆转录病毒模型,Bcat1基因缺陷的小鼠细胞在白血病发生过程中表现出缺陷。在小鼠T-ALL细胞中,Bcat1的缺失或抑制使亮氨酸代谢转向生成3-羟基丁酸(3-HB),这是一种内源性组蛋白去乙酰化酶抑制剂。一致地,BCAT1缺失的细胞显示出蛋白质乙酰化水平改变,这与对DNA损伤剂的显著敏感性相关。在人类NOTCH1依赖性白血病中,BCAT1的高表达水平可能预示着更差的预后。在治疗方面,BCAT1抑制与依托泊苷具有特异性协同作用,可在患者来源的异种移植模型中消除肿瘤,这表明BCAT1抑制剂可能在难治性T-ALL的挽救方案中发挥作用。