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논문 기본 정보

자료유형
학술저널
저자정보
김태훈 (Departments of Hospital Pathology Seoul St. Mary’s Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea) 이아원 (가톨릭대학교) Stephan Ahn (Departments of Neurosurgery, Seoul St. Mary’s Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea) 박재성 (Departments of Neurosurgery, Seoul St. Mary’s Hospital, College of Medicine, The Catholic University of Korea, Seou) Sin Soo Jeun (Departments of Neurosurgery, Seoul St. Mary’s Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea) 이연수 (가톨릭대학교)
저널정보
대한뇌종양학회 Brain Tumor Research and Treatment Brain Tumor Research and Treatment Vol.12 No.1
발행연도
2024.1
수록면
23 - 39 (17page)

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Background : Glioma is caused by multiple genomic alterations. The evolving classification of glio- mas emphasizes the significance of molecular testing. Next generation sequencing (NGS) offers the assessment of parallel combinations of multiple genetic alterations and identifying actionable mutations that guide treatment. This study comprehensively analyzed glioma patients using multi-gene NGS pan- els, providing powerful insights to inform diagnostic classification and targeted therapies. Mrthods : We conducted a targeted panel-based NGS analysis on formalin-fixed and paraffin- embedded nucleic acids extracted from a total of 147 glioma patients. These samples underwent am- plicon capture-based library preparation and sequenced using the Oncomine Comprehensive Assay platform. The resulting sequencing data were then analyzed using the bioinformatics tools. Results : A total of 301 mutations, were found in 132 out of 147 tumors (89.8%). These muta- tions were in 68 different genes. In 62 tumor samples (42.2%), copy number variations (CNVs) with gene amplifications occurred in 25 genes. Moreover, 25 tumor samples (17.0%) showed gene fusions in 6 genes and intragenic deletion in a gene. Our analysis identified actionable targets in several genes, including 11 with mutations, 8 with CNVs, and 3 with gene fusions and intragenic deletion. These find- ings could impact FDA-approved therapies, NCCN guideline-based treatments, and clinical trials. conclusion : We analyzed precisely diagnosing the classification of gliomas, detailing the frequency and co-occurrence of genetic alterations and identifying genetic alterations with potential therapeutic targets by NGS-based molecular analysis. The high-throughput NGS analysis is an efficient and pow- erful tool to comprehensively support molecular testing in neurooncology.

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