下一代测序技术在癌症管理医疗变革中的作用

Om Saswat Sahoo, Hiya Aidasani, Arnab Nayek, Smita Tripathi, Joyeeta Talukdar, Anamta Gul, Deepak Kumar, Ruby Dhar, Subhradip Karmakar
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引用次数: 0

摘要

下一代测序(NGS)已成为肿瘤学领域的一项变革性技术,为癌症诊断和个性化治疗策略带来了革命性的变化。通过全面了解肿瘤的基因状况,NGS 能够识别关键的体细胞和种系突变、拷贝数变异 (CNV) 和基因融合。在过去十年中,NGS 平台的进步带来了更高的准确性、速度和成本效益,使其成为癌症研究和临床诊断不可或缺的一部分。尽管 NGS 被广泛采用,但仍存在重大挑战,包括需要改进方法来检测最小残留病(MRD)和准确描述肿瘤异质性。本综述探讨了 NGS 技术的演变及其在癌症生物学中从早期诊断到治疗指导的关键作用。它深入探讨了 NGS 在鉴定 CNV 和基因融合、监测 MRD 方面的应用,以及靶向 NGS 和空间基因组学日益增长的相关性。此外,还强调了空间转录组学的整合是了解肿瘤微环境的一个前沿领域。通过探讨这些关键方面,本综述全面概述了 NGS 如何塑造癌症研究和治疗的未来,并全面介绍了 NGS 在科学和临床肿瘤学中的潜在应用。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Role of next-generation sequencing in revolutionizing healthcare for cancer management

Role of next-generation sequencing in revolutionizing healthcare for cancer management

Next-generation sequencing (NGS) has emerged as a transformative technology in oncology, revolutionizing cancer diagnostics and personalized treatment strategies. By providing comprehensive insights into the genetic landscape of tumors, NGS enables the identification of critical somatic and germline mutations, copy number variations (CNVs), and gene fusions. Over the past decade, advancements in NGS platforms have led to greater accuracy, speed, and cost-effectiveness, making it an integral part of cancer research and clinical diagnostics. Despite its widespread adoption, significant challenges remain, including the need for improved methods to detect minimal residual disease (MRD) and accurately profile tumor heterogeneity. This review explores the evolution of NGS technologies and their pivotal role in cancer biology, from early diagnostics to therapeutic guidance. It delves into the application of NGS in identifying CNVs and gene fusions, monitoring MRD, and the increasing relevance of targeted NGS and spatial genomics. Furthermore, the integration of spatial transcriptomics is highlighted as a frontier in understanding the tumor microenvironment. By addressing these critical aspects, this review provides a comprehensive overview of how NGS is shaping the future of cancer research and treatment, offering a complete overview of potential NGS applications in scientific and clinical oncology.

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