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Review
. 2019 Jan;110(1):6-15.
doi: 10.1111/cas.13837. Epub 2018 Nov 27.

Next generation sequencing-based gene panel tests for the management of solid tumors

Masayuki Nagahashi  1 , Yoshifumi Shimada  1 , Hiroshi Ichikawa  1 , Hitoshi Kameyama  1 , Kazuaki Takabe  1   2   3 , Shujiro Okuda  4 , Toshifumi Wakai  1
Affiliations
Review

Next generation sequencing-based gene panel tests for the management of solid tumors

Masayuki Nagahashi et al. Cancer Sci. 2019 Jan.

Abstract

Next generation sequencing (NGS) has been an invaluable tool to put genomic sequencing into clinical practice. The incorporation of clinically relevant target sequences into NGS-based gene panel tests has generated practical diagnostic tools that enable individualized cancer-patient care. The clinical utility of gene panel testing includes investigation of the genetic basis for an individual's response to therapy, such as signaling pathways associated with a response to specific therapies, microsatellite instability and a hypermutated phenotype, and deficiency in the DNA double-strand break repair pathway. In this review, we describe the concept of precision cancer medicine using target sequences in gene panel tests as well as the importance of the control of sample quality in routine NGS-based genomic testing. We describe geographic and ethnic differences in cancer genomes, and discuss issues that need to be addressed in the future based on our experiences in Japan.

Keywords: DNA double-strand break repair pathway; gene panel test; hypermutation; next generation sequencing; precision cancer medicine.

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Figures

Figure 1
Figure 1
Determination of the human and cancer genomes has been a long‐term effort in the USA. The Human Genome Project followed by The Cancer Genome Atlas project were underway from 1990 to 2017. Recently, the US FDA approved next generation sequencing‐based gene panel tests as companion diagnostic tools
Figure 2
Figure 2
Flow of a next generation sequencing (NGS)‐based gene panel test utilizing formalin‐fixed, paraffin‐embedded (FFPE) tissue. Preparation and preservation of FFPE tissue is the first step of the panel test, followed by DNA extraction, NGS analysis, curation of the data, and report of the data with therapeutic recommendations
Figure 3
Figure 3
Precision cancer medicine utilizing next generation sequencing (NGS)‐based gene panel testing. Patients will be treated according to certain characteristics based on information from genomic analysis. New treatment will be needed for the patients without druggable targets
Figure 4
Figure 4
Concept of “HER2‐oma”. Not only breast cancer patients, but also lung, gastric, and colorectal cancer patients with human epidermal growth factor receptor 2 (HER2) overexpression could be potentially treated with anti‐HER2 therapies
See this image and copyright information in PMC

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