Ding Ming, Ma Chunshuang, Lin Yanyan, Fang Houshun, Xu Yan, Wang Shuxuan, Chen Yao, Zhou Jiquan, Gao Hongxiang, Shan Yuhua, Yang Liyuan, Sun Huiying, Tang Yabin, Wu Xiaoyu, Zhu Liang, Zheng Liang, Assaraf Yehuda G, Zhou Bin-Bing S, Gu Song, Li Hui
Pediatric Translational Medicine Institute, Key Laboratory of Pediatric Hematology & Oncology Ministry of Health, Department of General Surgery, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, 200127, China.
Fujian Children's Hospital, Fujian Branch of Shanghai Children's Medical Center Affiliated to Shanghai Jiao Tong University School of Medicine, Fuzhou, 350014, China.
Cell Death Dis. 2025 Mar 17;16(1):179. doi: 10.1038/s41419-025-07502-6.
De novo purine biosynthesis (DNPS) was previously shown to be aberrantly activated in many cancers. However, the activity of DNPS pathway and its underlying regulatory mechanism in hepatoblastoma (HB) remain poorly understood. Herein, we discovered that the expression of PPAT, the rate-limiting enzyme in DNPS, was markedly upregulated in HB, leading to an augmented purine flux via DNPS, thereby promoting both HB cell proliferation and migration. Furthermore, we found that activated mutant β-catenin, a dominant driver of HB, transcriptionally activated PPAT expression, hence stimulating DNPS and constituting a druggable metabolic vulnerability in HB. Consistently, pharmacological targeting using a DNPS inhibitor lometrexol or genetic repressing the enhanced DNPS markedly blocked HB progression in vitro and in vivo. Our findings suggest that HB patients harboring activated β-catenin mutations and consequent DNPS upregulation, may be treated efficaciously with DNPS enzyme inhibitors like lometrexol. These novel findings bear major therapeutic implications for targeted precision medicine of HB.
先前的研究表明,从头嘌呤生物合成(DNPS)在许多癌症中被异常激活。然而,DNPS途径在肝母细胞瘤(HB)中的活性及其潜在的调控机制仍知之甚少。在本文中,我们发现DNPS的限速酶PPAT在HB中表达显著上调,导致通过DNPS的嘌呤通量增加,从而促进HB细胞增殖和迁移。此外,我们发现激活的突变型β-连环蛋白(HB的主要驱动因子)可转录激活PPAT的表达,从而刺激DNPS,并构成HB中一种可药物靶向的代谢脆弱性。一致地,使用DNPS抑制剂洛美曲索进行药物靶向治疗或基因抑制增强的DNPS,在体外和体内均显著阻断了HB的进展。我们的研究结果表明,携带激活的β-连环蛋白突变并导致DNPS上调的HB患者,可能用洛美曲索等DNPS酶抑制剂进行有效治疗。这些新发现对HB的靶向精准医学具有重要的治疗意义。