Target NGS panel for clinical detection of somatic cell mutations of gliomas

In clinical practice, the target-generation second-generation sequencing plate (next-generation sequencing panel, NGS panel) for solid tumors has been widely used for the precise diagnosis of tumors and the identification of basic mutations of moleculesDetermining tumor genomes and molecular characteristics can help achieve optimal individualized treatmentsCurrently, most tumor NGS panels are used for screening and diagnosis of pan-cancer edgy, and there is a lack of highly specific NGS panels for gliomasHyemi Shin of the Institute of Incurable Cancer at Samsung Medical Center in South Korea has designed and developed a targeted NGS panel for glioma, detecting glioma protein coding gene mutations, promoter mutations, copy number mutations (copy number variation, CNV) and potential primary cancer gene structure mutations (structures, SVs) with the goal of accurate diagnosis of diffuse gliomaations at the molecular levelThe results were published in the January 2020 issue of The Journal of Cancer Res Treatresearch method
research and development of glioma-specific NGS panel, also known as "GliomaSCAN"The genetic sources tested by the NGS panel are :1 Therapeutic gene targets approved by the Ministry of Food and Drug Safety of Korea and FDA of the United States; (2) therapeutic gene targets reported in the Cancer Somatic Cell Mutation (COSMIC) and other literatureGliomaSCAN captures single nucleotide variations and insertion/deletion, copy number variation, promoter mutation and structural variation, covering 232 gene-related genes of glioma inclusionsAt the same time, exobiotic sequence (WES), immunohistization analysis, and fluorescent insitimate hybridization were used to match the panel to confirm its clinical consistencyresearchers tested 48 glioma samplesHighly sensitive genomic variations may be demonstrated in standard samples tested by NGS panelTo test the accuracy of the target sequencing panel, the results show a high correlation between the target NGS panel and weS (Figure 1)At the same time, the authors assessed the clinical efficacy of NGS panel in 46 glioma patients to determine the potential ability to detect mutationsIn addition, it was found that in 32 glioma patients, the gene given to treating had more than one somatic cell mutation (Figure 2)Figure 1Compare the sensitivity of WES to NGS panel Figure 2 Genetic variation of the target s the results of the study analysis of copy number variation found that EGFR amplification and PTEN loss occurred only in GBM, and THAT THE IDH1 and ATRX mutations were the most common mutations in low-grade glioma (LGG) The most IDH1 mutation bit is the R132H mutation finally, the authors studied the application value of NGS panel in clinical diagnosis of glioma Because patients with gliomas with 1p/19q total missing have different therapeutic responses in treatment choices, 20 patients with 1p and 19q chromosome gene changes were selected to predict the total loss of 1p/19q In 11 cases, 9 genes were missing from the 1p chromosome, while 9 cases of 19q chromosomes were missing 8 genes The subject's working curve (ROC) showed that the accuracy of determining the total missing 1p/19q was 92.9% (95% CI, 0.8862-1) conclusions the authors establish a targeted NGS panel for glioma specificity GliomaSCAN has a high sensitivity and specificity of capturing cell mutations to help promote genome-based clinical trials and guide molecular targeted therapy.