https://scholars.lib.ntu.edu.tw/handle/123456789/635318
標題: | Deciphering Genetic Alterations of Taiwanese Patients with Pancreatic Adenocarcinoma through Targeted Sequencing | 作者: | Huang, Chi-Cheng Liu, Chih-Yi Huang, Chi-Jung Hsu, Yao-Chun Lien, Heng-Hui Wong, Jia-Uei Tai, Feng-Chuan Ku, Wen-Hui Hung, Chi-Feng JAW-TOWN LIN Huang, Ching-Shui Chiang, Han-Sun |
關鍵字: | Taiwan; actionable mutation; next-generation sequencing; pancreatic adenocarcinoma; targeted sequencing | 公開日期: | 29-一月-2022 | 卷: | 23 | 期: | 3 | 起(迄)頁: | 1579 | 來源出版物: | International journal of molecular sciences | 摘要: | Pancreatic adenocarcinoma (PAC) is the 8th leading cause of cancer-related deaths in Taiwan, and its incidence is increasing. The development of PAC involves successive accumulation of multiple genetic alterations. Understanding the molecular pathogenesis and heterogeneity of PAC may facilitate personalized treatment for PAC and identify therapeutic agents. We performed tumor-only next-generation sequencing (NGS) with targeted panels to explore the molecular changes underlying PAC patients in Taiwan. The Ion Torrent Oncomine Comprehensive Panel (OCP) was used for PAC metastatic lesions, and more PAC samples were sequenced with the Ion AmpliSeq Cancer Hot Spot (CHP) v2 panel. Five formalin-fixed paraffin-embedded (FFPE) metastatic PAC specimens were successfully assayed with OCP, and KRAS was the most prevalent alteration, which might contraindicate the use of anti-EGFR therapy. One PAC patient harbored a FGFR2 p. C382R mutation, which might benefit from FGFR tyrosine kinase inhibitors. An additional 38 samples assayed with CHP v2 showed 100 hotspot variants, collapsing to 54 COSMID IDs. The most frequently mutated genes were TP53, KRAS, and PDGFRA (29, 23, 10 hotspot variants), impacting 11, 23, and 10 PAC patients. Highly pathogenic variants, including COSM22413 (PDGFRA, FATHMM predicted score: 0.88), COSM520, COSM521, and COSM518 (KRAS, FATHMM predicted score: 0.98), were reported. By using NGS with targeted panels, somatic mutations with therapeutic potential were identified. The combination of clinical and genetic information is useful for decision making and precise selection of targeted medicine. |
URI: | https://www.scopus.com/record/display.uri?eid=2-s2.0-85123642048&doi=10.3390%2fijms23031579&origin=inward&txGid=83d511afbc49504e74f6c05453902f16 https://scholars.lib.ntu.edu.tw/handle/123456789/635318 |
ISSN: | 16616596 | DOI: | 10.3390/ijms23031579 |
顯示於: | 醫學系 |
在 IR 系統中的文件,除了特別指名其著作權條款之外,均受到著作權保護,並且保留所有的權利。