Du Xiaoyun, Zheng Junheng, Lu Xiangwan, Zhang Yan
MOE Key Laboratory of Gene Function and Regulation, School of Life Sciences, Sun Yat-sen University, Guangzhou 510275, China.
Int J Mol Sci. 2025 Mar 6;26(5):2353. doi: 10.3390/ijms26052353.
Tongue squamous cell carcinoma (TSCC), a subtype of head and neck squamous cell carcinoma, is characterized by frequent chemoresistance. Genetic mutations commonly observed in TSCC play a critical role in malignant progression; thus, elucidating their functional significance is essential for developing effective treatment strategies. To more accurately investigate the relationship between mutations and chemoresistance, we established low-passage TSCC cells, CTSC-1, obtained from a chemoresistant patient, and CTSC-2, from a treatment-naïve patient. Sanger sequencing revealed a specific TP53 mutation (Q331*) in CTSC-1, leading to the loss of the tetramerization and C-terminal regulatory domains. Notably, CTSC-1 cells harboring TP53-Q331* and CTSC-2 cells with TP53 knockout that have been engineered to ectopically express TP53-Q331* exhibit enhanced chemoresistance and increased cancer stem cell-like properties. Mechanistically, TP53-Q331* upregulates the expression of inhibitor of DNA binding 2 (ID2), which is crucial for maintaining the stemness of TSCC cells. Subsequently, ID2 activates the expression of nucleotide excision repair (NER) pathway-related genes ERCC4 and ERCC8, thereby enhancing the chemoresistance in TSCC. In conclusion, our study demonstrates that the TP53-Q331* mutation enhances TSCC chemoresistance through an ID2-mediated NER pathway, providing a potential prognostic marker and therapeutic target for TSCC chemotherapy resistance.
舌鳞状细胞癌(TSCC)是头颈部鳞状细胞癌的一种亚型,其特点是常出现化疗耐药。TSCC中常见的基因突变在恶性进展中起关键作用;因此,阐明其功能意义对于制定有效的治疗策略至关重要。为了更准确地研究突变与化疗耐药之间的关系,我们建立了低传代TSCC细胞系,从一名化疗耐药患者获取的CTSC-1,以及从一名未经治疗的患者获取的CTSC-2。桑格测序显示CTSC-1中存在一个特定的TP53突变(Q331*),导致四聚化和C端调节结构域缺失。值得注意的是,携带TP53-Q331的CTSC-1细胞以及经过基因工程改造以异位表达TP53-Q331的TP53基因敲除的CTSC-2细胞表现出增强的化疗耐药性和增加的癌症干细胞样特性。机制上,TP53-Q331上调DNA结合抑制因子2(ID2)的表达,这对于维持TSCC细胞的干性至关重要。随后,ID2激活核苷酸切除修复(NER)途径相关基因ERCC4和ERCC8的表达,从而增强TSCC的化疗耐药性。总之,我们的研究表明TP53-Q331突变通过ID2介导的NER途径增强TSCC化疗耐药性,为TSCC化疗耐药提供了一个潜在的预后标志物和治疗靶点。