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Cancer Research and Treatment > Accepted Articles
doi: https://doi.org/10.4143/crt.2021.218    [Accepted]
Comparison of the Data of a Next-Generation Sequencing Panel from K-MASTER Project with that of Orthogonal Methods for Detecting Targetable Genetic Alterations
Yoon Ji Choi1,2, Jung Yoon Choi1,2, Ju Won Kim1,2, Ah Reum Lim1,2, Youngwoo Lee1, Won Jin Chang1,2, Soohyeon Lee1,2, Jae Sook Sung2, Hee-Joon Chung2, Jong Won Lee3, Eun Joo Kang4, Jung Sun Kim5, Taekyu Lim6, Hye Sook Kim7, Yu Jung Kim8, Mi Sun Ahn9, Young Saing Kim10, Ji Hyun Park11, Seungtaek Lim12, Sung Shim Cho13, Jang Ho Cho14, Sang Won Shin1, Kyong Hwa Park1,2, Yeul Hong Kim1,2
1Division of Oncology, Department of Internal Medicine, Korea University Anam Hospital, Korea University College of Medicine, Seoul, Korea
2Cancer Precision Medicine Diagnosis and Treatment Enterprise, Korea University Anam Hospital, Seoul, Korea
3Brain Korea 21 Plus Project for Biomedical Science, Korea University College of Medicine, Seoul, Korea
4Division of Oncology, Department of Internal Medicine, Korea University Guro Hospital, Korea University College of Medicine, Seoul, Korea
5Division of Oncology, Department of Internal Medicine, Korea University Ansan Hospital, Korea University College of Medicine, Ansan, Korea
6Division of Hematology-Oncology, Department of Internal Medicine, Veterans Health Service Medical Center, Seoul, Korea
7Department of Internal Medicine, Inje University Ilsan Hospital, Goyang, Korea
8Department of Internal Medicine, Seoul National University Bundang Hospital, Seoul National University College of Medicine, Seongnam, Korea
9Ajou University Medical Center, Suwon, Korea
10Division of Medical Oncology, Department of Internal Medicine, Gil Medical Center, Gachon University College of Medicine, Incheon, Korea
11Department of Hemato-Oncology, Konkuk Medical Center, University of Konkuk College of Medicine, Seoul, Korea
12Department of Oncology, Wonju Severance Christianity Hospital, Wonju, Korea
13Division of Medical Oncology, Department of Internal Medicine, St. Vincent’s Hospital, College of Medicine, The Catholic University of Korea, Suwon, Korea
14Division of Oncology, Department of Internal Medicine, Incheon St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Incheon, Korea
Correspondence  Yeul Hong Kim ,Tel: 82-2-920-5569, Fax: 82-2-926-4534, Email: yhk0215@korea.ac.kr
Received: February 15, 2021;  Accepted: May 18, 2021.  Published online: May 20, 2021.
ABSTRACT
Purpose
K-MASTER project is a Korean national precision medicine platform that screened actionable mutations by analyzing next-generation sequencing (NGS) of solid tumor patients. We compared gene analyses between NGS panel from the K-MASTER project and orthogonal methods.
Materials and Methods
Colorectal, breast, non-small-cell lung, and gastric cancer patients were included. We compared NGS results from K-MASTER projects with those of non-NGS orthogonal methods (KRAS, NRAS, and BRAF mutations in colorectal cancer (CRC); EGFR, ALK fusion, and ROS1 fusion in non-small-cell lung cancer (NSCLC), and ERBB2 positivity in breast and gastric cancers).
Results
In the CRC cohort (n=225), the sensitivity and specificity of NGS were 87.4% and 79.3% (KRAS); 88.9% and 98.9% (NRAS); and 77.8% and 100.0% (BRAF), respectively. In the NSCLC cohort (n=109), the sensitivity and specificity of NGS for EGFR were 86.2% and 97.5%, respectively. The concordance rate for ALK fusion was 100%, but ROS1 fusion was positive in only one of three cases that were positive in orthogonal tests. In the breast cancer cohort (n=260), ERBB2 amplification was detected in 45 by NGS. Compared with orthogonal methods that integrated immunohistochemistry and in situ hybridization, sensitivity and specificity were 53.7% and 99.4%, respectively. In the gastric cancer cohort (n=64), ERBB2 amplification was detected in six by NGS. Compared with orthogonal methods, sensitivity and specificity were 62.5% and 98.2%, respectively.
Conclusion
The results of the K-MASTER NGS panel and orthogonal methods showed a different degree of agreement for each genetic alteration, but generally showed a high agreement rate.
Key words: High-throughput nucleotide sequencing, Pathology, Molecular, Precision medicine, Targetable gene alteration
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