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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2021.1
- 수록면
- 386 - 391 (6page)
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초록· 키워드
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Owing to rapid advancements in NGS (next generation sequencing), genomic alteration is now considered an essential predictive biomarkers that impact the treatment decision in many cases of cancer. Among the various predictive biomarkers, tumor mutation burden (TMB) was identified by NGS and was considered to be useful in predicting a clinical response in cancer cases treated by immunotherapy. In this study, we directly compared the lab-developed-test (LDT) results by target sequencing panel, K-MASTER panel v3.0 and whole-exome sequencing (WES) to evaluate the concordance of TMB. As an initial step, the reference materials (n = 3) with known TMB status were used as an exploratory test. To validate and evaluate TMB, we used one hundred samples that were acquired from surgically resected tissues of non-small cell lung cancer (NSCLC) patients. The TMB of each sample was tested by using both LDT and WES methods, which extracted the DNA from samples at the same time. In addition, we evaluated the impact of capture region, which might lead to different values of TMB; the evaluation of capture region was based on the size of NGS and target sequencing panels. In this pilot study, TMB was evaluated by LDT and WES by using duplicated reference samples; the results of TMB showed high concordance rate (R2 = 0.887). This was also reflected in clinical samples (n = 100), which showed R2 of 0.71. The difference between the coding sequence ratio (3.49%) and the ratio of mutations (4.8%) indicated that the LDT panel identified a relatively higher number of mutations. It was feasible to calculate TMB with LDT panel, which can be useful in clinical practice. Furthermore, a customized approach must be developed for calculating TMB, which differs according to cancer types and specific clinical settings.
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참고문헌 (24)
참고문헌 신청
Shen T / 2015 / Clinical applications of next generation sequencing in cancer : from panels, to exomes, to genomes / Front Genet 6:215
Luthra R / 2015 / Next-generation sequencing in clinical molecular diagnostics of cancer: advantages and challenges / Cancers (Basel) 7:2023~2036
Ettinger DS / 2021 / NCCN Guidelines insights : non-small cell lung cancer, version 2. 2021 / J Natl Compr Canc Netw 19:254~266
Drilon A / 2015 / Broad, hybrid capture-based next-generation sequencing identifies actionable genomic alterations in lung adenocarcinomas otherwise negative for such alterations by other genomic testing approaches / Clin Cancer Res 21:3631~3639
Surrey LF / 2019 / Clinical utility of custom-designed NGS panel testing in pediatric tumors / Genome Med 11:32
Luthra R / 2015 / Next-generation sequencing in clinical molecular diagnostics of cancer: advantages and challenges / Cancers (Basel) 7:2023~2036
Ettinger DS / 2021 / NCCN Guidelines insights : non-small cell lung cancer, version 2. 2021 / J Natl Compr Canc Netw 19:254~266
Drilon A / 2015 / Broad, hybrid capture-based next-generation sequencing identifies actionable genomic alterations in lung adenocarcinomas otherwise negative for such alterations by other genomic testing approaches / Clin Cancer Res 21:3631~3639
Surrey LF / 2019 / Clinical utility of custom-designed NGS panel testing in pediatric tumors / Genome Med 11:32
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