Division of Molecular Oncology, Department of Computational Biology and Medical Sciences, Graduate School of Frontier Sciences, The University of Tokyo, Tokyo, Japan.
Division of Molecular Pharmacology of Malignant Diseases, Graduate School of Pharmaceutical Sciences, The University of Tokyo, Tokyo, Japan.
Leukemia. 2024 Dec;38(12):2614-2627. doi: 10.1038/s41375-024-02394-5. Epub 2024 Sep 15.
Acute erythroleukemia (AEL) is a rare subtype of acute myeloid leukemia with a poor prognosis. In this study, we established a novel murine AEL model with Trp53 depletion and ERG overexpression. ERG overexpression in Trp53-deficient mouse bone marrow cells, but not in wild-type bone marrow cells, leads to AEL development within two months after transplantation with 100% penetrance. The established mouse AEL cells expressing Cas9 can be cultured in vitro, induce AEL in vivo even in unirradiated recipient mice, and enable efficient gene ablation using the CRISPR/Cas9 system. We also confirmed the cooperation between ERG overexpression and TP53 inactivation in promoting the growth of immature erythroid cells in human cord blood cells. Mechanistically, ERG antagonizes KLF1 and inhibits erythroid maturation, whereas TP53 deficiency promotes proliferation of erythroid progenitors. Furthermore, we identified HDAC7 as a specific susceptibility in AEL by the DepMap-based two-group comparison analysis. HDAC7 promotes the growth of human and mouse AEL cells both in vitro and in vivo through its non-enzymatic functions. Our study provides experimental evidence that TP53 deficiency and ERG overexpression are necessary and sufficient for the development of AEL and highlights HDAC7 as a promising therapeutic target for this disease.
急性红白血病(AEL)是一种预后较差的罕见急性髓系白血病亚型。在本研究中,我们建立了一种新型的 Trp53 缺失和 ERG 过表达的小鼠 AEL 模型。在 Trp53 缺陷型小鼠骨髓细胞中过表达 ERG,但在野生型骨髓细胞中不过表达,可导致移植后两个月内出现 AEL,且具有 100%的穿透率。表达 Cas9 的建立的小鼠 AEL 细胞可以在体外培养,即使在未辐照的受鼠中也能诱导 AEL,并能通过 CRISPR/Cas9 系统有效地进行基因缺失。我们还证实了 ERG 过表达和 TP53 失活在促进人脐血造血细胞中未成熟红细胞生长中的协同作用。从机制上讲,ERG 拮抗 KLF1 并抑制红细胞成熟,而 TP53 缺失则促进红细胞祖细胞的增殖。此外,我们通过基于 DepMap 的两组比较分析确定了 HDAC7 是 AEL 的一个特定易感性基因。HDAC7 通过其非酶功能促进人源和鼠源 AEL 细胞的体外和体内生长。本研究提供了实验证据,证明 TP53 缺失和 ERG 过表达是 AEL 发展的必要和充分条件,并强调了 HDAC7 作为该疾病有前途的治疗靶点。