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癌症诊断与治疗中的下一代测序:临床应用与未来方向。

Next-generation sequencing in cancer diagnosis and treatment: clinical applications and future directions.

作者信息

Ghoreyshi Nima, Heidari Reza, Farhadi Arezoo, Chamanara Mohsen, Farahani Nastaran, Vahidi Mahmood, Behroozi Javad

机构信息

Cancer Epidemiology Research Center, AJA University of Medical Sciences, Tehran, Iran.

Department of Genetics and Molecular Medicine, School of Medicine, Zanjan University of Medical Sciences, Zanjan, Iran.

出版信息

Discov Oncol. 2025 Apr 20;16(1):578. doi: 10.1007/s12672-025-01816-9.

Abstract

Next-generation sequencing (NGS) has emerged as a pivotal technology in the field of oncology, transforming the approach to cancer diagnosis and treatment. This paper provides a comprehensive overview of the integration of NGS into clinical settings, emphasizing its significant contributions to precision medicine. NGS enables detailed genomic profiling of tumors, identifying genetic alterations that drive cancer progression and facilitating personalized treatment plans targeting specific mutations, thereby improving patient outcomes. This capability facilitates the development of personalized treatment plans targeting specific mutations, leading to improved patient outcomes and the potential for better prognosis. The application of NGS extends beyond identifying actionable mutations; it is instrumental in detecting hereditary cancer syndromes, thus aiding in early diagnosis and preventive strategies. Furthermore, NGS plays a crucial role in monitoring minimal residual disease, offering a sensitive method to detect cancer recurrence at an early stage. Its use in guiding immunotherapy by identifying biomarkers that predict response to treatment is also highlighted. Ethical issues related to genetic testing, such as concerns around patient consent and data privacy, are also important considerations that need to be addressed for the broader implementation of NGS. These include the complexities of data interpretation, the need for robust bioinformatics support, cost considerations, and ethical issues related to genetic testing. Addressing these challenges is essential for the widespread adoption of NGS. Looking forward, advancements such as single-cell sequencing and liquid biopsies promise to further enhance the precision of cancer diagnostics and treatment. This review emphasizes the transformative impact of NGS in oncology and advocates for its incorporation into routine clinical practice to promote molecularly driven cancer care.

摘要

下一代测序(NGS)已成为肿瘤学领域的一项关键技术,改变了癌症诊断和治疗的方法。本文全面概述了NGS在临床环境中的整合情况,强调了其对精准医学的重大贡献。NGS能够对肿瘤进行详细的基因组分析,识别驱动癌症进展的基因改变,并有助于制定针对特定突变的个性化治疗方案,从而改善患者的治疗效果。这种能力有助于制定针对特定突变的个性化治疗方案,提高患者的治疗效果,并有可能改善预后。NGS的应用不仅限于识别可操作的突变;它在检测遗传性癌症综合征方面也很有帮助,从而有助于早期诊断和预防策略。此外,NGS在监测微小残留病方面发挥着关键作用,提供了一种在早期检测癌症复发的灵敏方法。文中还强调了其通过识别预测治疗反应的生物标志物来指导免疫治疗的应用。与基因检测相关的伦理问题,如对患者同意和数据隐私的担忧,也是在更广泛实施NGS时需要解决的重要考虑因素。这些问题包括数据解释的复杂性、对强大的生物信息学支持的需求、成本考虑以及与基因检测相关的伦理问题。应对这些挑战对于NGS的广泛应用至关重要。展望未来,单细胞测序和液体活检等进展有望进一步提高癌症诊断和治疗的精准度。本综述强调了NGS在肿瘤学中的变革性影响,并主张将其纳入常规临床实践,以促进分子驱动的癌症治疗。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dde1/12009796/4e3f8ea4cd11/12672_2025_1816_Fig1_HTML.jpg

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