Yu Haiyang, Wu Xiangxiang, Liu Yiting, Xin Congling, Zhou Yu, Ding Xiaoyi
Department of Radiology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China.
Department of Radiology, Lianyungang TCM Hospital Affiliated to Nanjing University of Chinese Medicine, Lianyungang, 222004, China.
Int J Med Sci. 2025 Jul 10;22(13):3268-3276. doi: 10.7150/ijms.117603. eCollection 2025.
Hepatocellular carcinoma (HCC) is a genetically heterogeneous malignancy in which single-gene mutations serve as critical drivers of tumor initiation, progression, and therapeutic resistance. Advances in high-throughput genomics and liquid biopsy technologies have highlighted the clinical utility of mutations in genes such as TP53, CTNNB1, and TERT as diagnostic, prognostic, and predictive biomarkers. These mutations disrupt key oncogenic pathways, modulate the tumor immune microenvironment, and contribute to intratumoral heterogeneity, complicating disease management. Mutation-guided precision medicine, including telomerase inhibitors, Wnt/β-catenin pathway modulators, and immune checkpoint blockade, offers promising avenues for individualized treatment in HCC. However, challenges persist in translating these findings into clinical practice due to mutation complexity, resistance mechanisms, and limitations in biomarker standardization. Emerging strategies such as multi-omics integration, artificial intelligence, and gene editing technologies hold potential to overcome these barriers and facilitate the development of personalized therapeutic regimens. This review summarizes the molecular mechanisms, clinical applications, and translational challenges of single-gene mutations in HCC, with the aim of guiding future research and precision oncology.
肝细胞癌(HCC)是一种基因异质性恶性肿瘤,其中单基因突变是肿瘤起始、进展和治疗耐药的关键驱动因素。高通量基因组学和液体活检技术的进展凸显了TP53、CTNNB1和TERT等基因中的突变作为诊断、预后和预测生物标志物的临床效用。这些突变破坏关键致癌途径,调节肿瘤免疫微环境,并导致肿瘤内异质性,使疾病管理复杂化。突变导向的精准医学,包括端粒酶抑制剂、Wnt/β-连环蛋白途径调节剂和免疫检查点阻断,为HCC的个体化治疗提供了有前景的途径。然而,由于突变复杂性、耐药机制和生物标志物标准化的局限性,将这些发现转化为临床实践仍存在挑战。多组学整合、人工智能和基因编辑技术等新兴策略有潜力克服这些障碍,并促进个性化治疗方案的开发。本综述总结了HCC中单基因突变的分子机制、临床应用和转化挑战,旨在指导未来研究和精准肿瘤学。