Chen Fanghui, Yang Jianqiang, Popoola David O, Yang Fan, Liu Yajie, Wang Dongsheng, Qin Zhaohui S, Chen Zhengjia, Saba Nabil F, Chen Zhuo G, Li Yamin, Teng Yong
Department of Hematology and Medical Oncology, Winship Cancer Institute, Emory University, Atlanta, GA, 30322, USA.
Department of Pharmacology, State University of New York, Upstate Medical University, Syracuse, NY, 13210, USA.
Adv Sci (Weinh). 2025 Aug;12(30):e02146. doi: 10.1002/advs.202502146. Epub 2025 May 23.
FAT atypical cadherin 1 (FAT1) is one of the most frequently mutated genes in head and neck squamous cell carcinoma (HNSCC), exhibiting the highest mutation rate across different tumor types. Although FAT1's role has attracted considerable attention, its impact on cancer metabolism and treatment resistance remains poorly understood. In this study, it is demonstrated that knockout of mutant FAT1 in HNSCC cells attenuates CPT1A-driven fatty acid oxidation (FAO) through downregulation of the transcription factor ASCL2, leading to marked suppression of tumor growth. Notably, FAT1-mutant HNSCC cells exhibit resistance to the TCA cycle inhibitor CPI-613 through activation of CPT1A-mediated FAO, whereas genetic ablation of mutant FAT1 restores sensitivity to CPI-613. To achieve in vivo depletion of FAT1, LNP-sgFAT1 is developed, a novel lipid nanoparticle (LNP) system encapsulating Cas9 mRNA and FAT1-targeting sgRNA. In murine models bearing FAT1-mutant head and neck tumors, LNP-sgFAT1 demonstrated enhanced antitumor activity when combined with CPI-613. Collectively, these findings establish that mutant FAT1 drives CPT1A-dependent FAO, facilitating a metabolic bypass that confers resistance to TCA cycle inhibition in HNSCC. This mechanistic insight highlights promising opportunities for combinatorial therapeutic strategies co-targeting genetic and metabolic vulnerabilities in cancer.
FAT非典型钙黏蛋白1(FAT1)是头颈部鳞状细胞癌(HNSCC)中最常发生突变的基因之一,在不同肿瘤类型中表现出最高的突变率。尽管FAT1的作用已引起相当多的关注,但其对癌症代谢和治疗耐药性的影响仍知之甚少。在本研究中,证明敲除HNSCC细胞中的突变型FAT1可通过下调转录因子ASCL2来减弱CPT1A驱动的脂肪酸氧化(FAO),从而导致肿瘤生长受到显著抑制。值得注意的是,FAT1突变的HNSCC细胞通过激活CPT1A介导的FAO对三羧酸循环抑制剂CPI-613表现出抗性,而突变型FAT1的基因消融可恢复对CPI-613的敏感性。为了在体内耗尽FAT1,开发了LNP-sgFAT1,这是一种新型脂质纳米颗粒(LNP)系统,包裹着Cas9 mRNA和靶向FAT1的sgRNA。在携带FAT1突变的头颈部肿瘤的小鼠模型中,LNP-sgFAT1与CPI-613联合使用时显示出增强的抗肿瘤活性。总体而言,这些发现表明突变型FAT1驱动CPT1A依赖性FAO,促进了一种代谢旁路,赋予HNSCC对三羧酸循环抑制的抗性。这一机制见解突出了针对癌症中遗传和代谢脆弱性的联合治疗策略的有前景的机会。