Macrogen发表于《Genome Research》的肺癌相关的基因融合研究.pdfVIP

Research A transforming KIF5B and RET gene fusion in lung adenocarcinoma revealed from whole-genome and transcriptome sequencing Young Seok Ju,1,2 Won-Chul Lee,1,3 Jong-Yeon Shin,1,4 Seungbok Lee,1,3 Thomas Bleazard,1 Jae-Kyung Won,5 Young Tae Kim,6,7 Jong-Il Kim,1,3,4,8 Jin-Hyoung Kang,9 and Jeong-Sun Seo1,2,3,4,8,10 1Genomic Medicine Institute (GMI), Medical Research Center, Seoul National University, Seoul 110-799, Korea; 2Macrogen Inc., Seoul 153-781, Korea; 3Department of Biomedical Sciences, Seoul National University Graduate School, Seoul 110-799, Korea; 4Psoma Therapeutics Inc., Seoul 153-781, Korea; 5Molecular Pathology Center, Seoul National University Cancer Hospital, Seoul 110-744, Korea; 6Department of Thoracic and Cardiovascular Surgery, Clinical Research Institute, Seoul National University Hospital, Seoul 110- 799, Korea; 7Cancer Research Institute, Seoul National University College of Medicine, Seoul 110-799, Korea, 8Department of Biochemistry and Molecular Biology, Seoul National University College of Medicine, Seoul 110-799, Korea; 9Department of Internal Medicine, Seoul St. Mary’s Hospital, The Catholic University, Seoul 137-040, Korea The identification of the molecular events that drive cancer transformation is essential to the development of targeted agents that improve the clinical outcome of lung cancer. Many studies have reported genomic driver mutations in non-small-cell lung cancers (NSCLCs) over the past decade; however, the molecular pathogenesis of 40% of NSCLCs is still unknown. To identify new molecular targets in NSCLCs, we performed the combined analysis of massively parallel whole-genome and transcriptome sequencing for cancer and paired normal tissue of a 33-yr-old lung adenocarcinoma patient, who is a never- smoker and has no familial cancer history. The cancer showed no known driver mutation in EGFR or KRAS and no EML4-ALK fusion. Here we report a novel fus