癌症患者下一代测序的最新进展。

IF 3.9 3区 医学 Q1 PATHOLOGY
Tianyu Qiu, Xinxin Zhi, Shengxiang Ren
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引用次数: 1

摘要

引言:基于驱动基因突变状态的精准医学是目前癌症患者的系统治疗模式。凭借高通量和大规模并行测序,下一代测序(NGS)已成为一个强大的分子诊断平台。液体活检还能够以无创的方式对癌症进行动态监测和全面分析。然而,技术和临床应用领域仍然存在挑战,尤其是在免疫疗法时代。涵盖的领域:在此,我们更新了NGS在癌症筛查、分子诊断、预测和预后生物标志物以及指导个性化治疗中的作用。专家意见:NGS在可操作基因组改变方面的应用极大地改变了癌症患者的治疗前景,包括围手术期和晚期。与此同时,新出现的证据显示了其他应用的潜力,如早期筛查和检测以及MRD。然而,挑战仍然存在,例如缺乏跨不同平台和生物信息学分析管道的标准化协议,以及解释和利用大量基因组突变信息进行治疗选择的复杂性。需要未来的研究来克服这些挑战,并将NGS的应用扩展到免疫疗法等其他方面。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Recent advance of next-generation sequencing in patients with lung cancer.

Introduction: Precision medicine based on the driver genes mutation status is the current systemic therapeutic paradigm in patients with lung cancer. Next-generation sequencing (NGS) has emerged as a powerful platform for molecular diagnosis by virtue of high-throughput and massively parallel sequencing. Liquid biopsy also enabled the dynamic monitoring and comprehensive profiling of lung cancer in a noninvasive manner. However, challenges remain in the field of technology and clinical applications, especially in the era of immunotherapy.

Areas covered: Here, we update the role of NGS in the context of lung cancer screening, molecular diagnosis, predictive and prognostic biomarkers, and guiding personalized treatment.

Expert opinion: The NGS application for actable genomic alternation has greatly changed the therapeutic landscape in patients with lung cancer including perioperative setting and advanced stage. Meanwhile, emerging evidence has shown the potential of other applications such as early screening and detection, and MRD. However, challenges remain such as the lack of standardized protocols across different platforms and bioinformatics analysis pipelines, and the complexity of interpreting and leveraging numerous genomic mutation messages for therapy selection. Future research is needed to overcome these challenges and expand the applications of NGS to other aspects such as immunotherapy.

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来源期刊
CiteScore
6.60
自引率
0.00%
发文量
71
审稿时长
1 months
期刊介绍: Expert Review of Molecular Diagnostics (ISSN 1473-7159) publishes expert reviews of the latest advancements in the field of molecular diagnostics including the detection and monitoring of the molecular causes of disease that are being translated into groundbreaking diagnostic and prognostic technologies to be used in the clinical diagnostic setting. Each issue of Expert Review of Molecular Diagnostics contains leading reviews on current and emerging topics relating to molecular diagnostics, subject to a rigorous peer review process; editorials discussing contentious issues in the field; diagnostic profiles featuring independent, expert evaluations of diagnostic tests; meeting reports of recent molecular diagnostics conferences and key paper evaluations featuring assessments of significant, recently published articles from specialists in molecular diagnostic therapy. Expert Review of Molecular Diagnostics provides the forum for reporting the critical advances being made in this ever-expanding field, as well as the major challenges ahead in their clinical implementation. The journal delivers this information in concise, at-a-glance article formats: invaluable to a time-constrained community.
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