Division of Digestive and General Surgery, Niigata University Graduate School of Medical and Dental Sciences, 1-757 Asahimachi-dori, Chuo-ku, Niigata, Niigata, 951-8510, Japan.
Int J Clin Oncol. 2019 Feb;24(2):115-122. doi: 10.1007/s10147-018-1375-3. Epub 2018 Dec 4.
Numerous technical and functional advances in next-generation sequencing (NGS) have led to the adoption of this technique in conventional clinical practice. Recently, large-scale genomic research and NGS technological innovation have revealed many more details of somatic and germline mutations in solid tumors. This development is allowing for the classification of tumor type sub-categories based on genetic alterations in solid tumors, and based on this information, new drugs and targeted therapies are being administered to patients. This has largely been facilitated by gene panel testing, which allows for a better understanding of the genetic basis for an individual's response to therapy. NGS-based comprehensive gene panel testing is a clinically useful approach to investigate genomic mechanisms, including therapy-related signaling pathways, microsatellite instability, hypermutated phenotypes, and tumor mutation burden. In this review, we describe the concept of precision medicine in solid tumors using NGS-based comprehensive gene panel testing, as well as the importance of quality control of tissue sample handling in routine NGS-based genomic testing, and we discuss issues for the future adoption of this technique in Japan.
下一代测序（NGS）在技术和功能上取得了众多进展，已使其在常规临床实践中得到应用。最近，大规模的基因组研究和 NGS 技术创新揭示了实体瘤中体细胞和种系突变的更多细节。这一发展使得能够基于实体瘤中的遗传改变对肿瘤类型进行亚分类，并基于这些信息向患者提供新的药物和靶向治疗。这在很大程度上得益于基因面板检测，它可以更好地了解个体对治疗反应的遗传基础。基于 NGS 的综合基因面板检测是一种临床有用的方法，可以研究基因组机制，包括治疗相关的信号通路、微卫星不稳定性、高突变表型和肿瘤突变负担。在这篇综述中，我们描述了使用基于 NGS 的综合基因面板检测的实体瘤精准医学概念，以及组织样本处理的常规 NGS 基因组检测中质量控制的重要性，并讨论了该技术在日本未来应用的问题。
