Belt Alex J, Grant Steven, Tombes Robert M, Rothschild Sarah C
Life Sciences, Virginia Commonwealth University, Richmond, Virginia, United States of America.
Massey Cancer Center, Virginia Commonwealth University, Richmond, Virginia, United States of America.
PLoS Genet. 2024 Jun 3;20(6):e1011308. doi: 10.1371/journal.pgen.1011308. eCollection 2024 Jun.
Acute myeloid leukemia (AML) accounts for greater than twenty thousand new cases of leukemia annually in the United States. The average five-year survival rate is approximately 30%, pointing to the need for developing novel model systems for drug discovery. In particular, patients with chromosomal rearrangements in the mixed lineage leukemia (MLL) gene have higher relapse rates with poor outcomes. In this study we investigated the expression of human MLL-ENL and MLL-AF9 in the myeloid lineage of zebrafish embryos. We observed an expansion of MLL positive cells and determined these cells colocalized with the myeloid markers spi1b, mpx, and mpeg. In addition, expression of MLL-ENL and MLL-AF9 induced the expression of endogenous bcl2 and cdk9, genes that are often dysregulated in MLL-r-AML. Co-treatment of lyz: MLL-ENL or lyz:MLL-AF9 expressing embryos with the BCL2 inhibitor, Venetoclax, and the CDK9 inhibitor, Flavopiridol, significantly reduced the number of MLL positive cells compared to embryos treated with vehicle or either drug alone. In addition, cotreatment with Venetoclax and Flavopiridol significantly reduced the expression of endogenous mcl1a compared to vehicle, consistent with AML. This new model of MLL-r-AML provides a novel tool to understand the molecular mechanisms underlying disease progression and a platform for drug discovery.
急性髓系白血病(AML)在美国每年新增白血病病例超过两万例。平均五年生存率约为30%,这表明需要开发新的药物研发模型系统。特别是,混合谱系白血病(MLL)基因发生染色体重排的患者复发率更高,预后较差。在本研究中,我们调查了人类MLL-ENL和MLL-AF9在斑马鱼胚胎髓系中的表达。我们观察到MLL阳性细胞增多,并确定这些细胞与髓系标志物spi1b、mpx和mpeg共定位。此外,MLL-ENL和MLL-AF9的表达诱导了内源性bcl2和cdk9的表达,这两个基因在MLL-r-AML中常发生失调。用BCL2抑制剂维奈托克(Venetoclax)和CDK9抑制剂氟吡汀(Flavopiridol)联合处理表达lyz:MLL-ENL或lyz:MLL-AF9的胚胎,与用赋形剂或单独使用任一药物处理的胚胎相比,显著减少了MLL阳性细胞的数量。此外,与赋形剂相比,维奈托克和氟吡汀联合处理显著降低了内源性mcl1a的表达,这与AML一致。这种新的MLL-r-AML模型为理解疾病进展的分子机制提供了一种新工具,也为药物研发提供了一个平台。