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Single-Gene Mutations in Hepatocellular Carcinoma: Applications and Challenges in Precision Medicine
Int J Med Sci. 2025 Jul 10;22(13):3268-3276. doi: 10.7150/ijms.117603. eCollection 2025.
ABSTRACT
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/Ξ²-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.
PMID:40765562 | PMC:PMC12320797 | DOI:10.7150/ijms.117603
Application of artificial intelligence and machine learning in lung transplantation: a comprehensive review
Front Digit Health. 2025 May 1;7:1583490. doi: 10.3389/fdgth.2025.1583490. eCollection 2025.
ABSTRACT
Lung transplantation (LTx) is an effective method for treating end-stage lung disease. The management of lung transplant recipients is a complex, multi-stage process that involves preoperative, intraoperative, and postoperative phases, integrating multidimensional data such as demographics, clinical data, pathology, imaging, and omics. Artificial intelligence (AI) and machine learning (ML) excel in handling such complex data and contribute to preoperative assessment and postoperative management of LTx, including the optimization of organ allocation, assessment of donor suitability, prediction of patient and graft survival, evaluation of quality of life, and early identification of complications, thereby enhancing the personalization of clinical decision-making. However, these technologies face numerous challenges in real-world clinical applications, such as the quality and reliability of datasets, model interpretability, physicians' trust in the technology, and legal and ethical issues. These problems require further research and resolution so that AI and ML can more effectively enhance the success rate of LTx and improve patients' quality of life.
PMID:40376618 | PMC:PMC12078212 | DOI:10.3389/fdgth.2025.1583490
Epigenetic regulation during cancer transitions across 11 tumour types
Nature, Published online: 01 November 2023; doi:10.1038/s41586-023-06682-5
A pan-cancer epigenetic and transcriptomic atlas identifies epigenetic drivers associated with cancer transitions.