title: SEC31A-ALK Fusion Gene in Lung Adenocarcinoma.
abstract: Anaplastic lymphoma kinase (ALK) fusion is a common mechanism underlying pathogenesis of non-small cell lung carcinoma (NSCLC) where these rearrangements represent important diagnostic and therapeutic targets. In this study, we found a new ALK fusion gene, SEC31A-ALK, in lung carcinoma from a 53-year-old Korean man. The conjoined region in the fusion transcript was generated by the fusion of SEC31A exon 21 and ALK exon 20 by genomic rearrangement, which contributed to generation of an intact, in-frame open reading frame. SEC31A-ALK encodes a predicted fusion protein of 1,438 amino acids comprising the WD40 domain of SEC31A at the N-terminus and ALK kinase domain at the C-terminus. Fluorescence in situ hybridization studies suggested that SEC31A-ALK was generated by an unbalanced genomic rearrangement associated with loss of the 3'-end of SEC31A. This is the first report of SEC31A-ALK fusion transcript in clinical NSCLC, which could be a novel diagnostic and therapeutic target for patients with NSCLC.
authors.affiliation: Department of Pharmacy, College of Pharmacy, Seoul National University, Seoul, Korea ; Tumor Microenvironment Global Core Research Center, Seoul National University, Seoul, Korea.
authors.forename: Ryong Nam
authors.initials: RN
authors.lastname: Kim
authors.affiliation: Department of Pathology, Samsung Medical Center, Sungkyunkwan University College of Medicine, Seoul, Korea ; Laboratory of Cancer Genomics and Molecular Pathology, Samsung Biomedical Research Institute, Samsung Medical Center, Seoul, Korea ; Samsung Advanced Institute for Health Sciences & Technology, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors.forename: Yoon-La
authors.initials: YL
authors.lastname: Choi
authors.affiliation: Laboratory of Cancer Genomics and Molecular Pathology, Samsung Biomedical Research Institute, Samsung Medical Center, Seoul, Korea ; Samsung Advanced Institute for Health Sciences & Technology, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors.forename: Mi-Sook
authors.initials: MS
authors.lastname: Lee
authors.affiliation: Oncology Research Unit, Pfizer Worldwide Research and Development, San Diego, CA, USA.
authors.forename: Maruja E
authors.initials: ME
authors.lastname: Lira
authors.affiliation: Oncology Research Unit, Pfizer Worldwide Research and Development, San Diego, CA, USA.
authors.forename: Mao
authors.initials: M
authors.lastname: Mao
authors.affiliation: Enzymatics, Boulder, CO, USA.
authors.forename: Derrick
authors.initials: D
authors.lastname: Mann
authors.affiliation: Enzymatics, Boulder, CO, USA.
authors.forename: Joshua
authors.initials: J
authors.lastname: Stahl
authors.affiliation: Enzymatics, Boulder, CO, USA.
authors.forename: Abel
authors.initials: A
authors.lastname: Licon
authors.affiliation: Department of Thoracic Surgery, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors.forename: So Jung
authors.initials: SJ
authors.lastname: Choi
authors.affiliation: Department of Pathology, Samsung Medical Center, Sungkyunkwan University College of Medicine, Seoul, Korea ; Department of Pathology, Baylor University Medical Center at Dallas, Dallas, TX, USA.
authors.forename: Michael
authors.initials: M
authors.lastname: Van Vrancken
authors.affiliation: Department of Pathology, Samsung Medical Center, Sungkyunkwan University College of Medicine, Seoul, Korea.
authors.forename: Joungho
authors.initials: J
authors.lastname: Han
authors.affiliation: Department of Human Genetics, KU Leuven, Leuven, Belgium.
authors.forename: Iwona
authors.initials: I
authors.lastname: Wlodarska
authors.affiliation: Department of Thoracic Surgery, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors.forename: Jhingook
authors.initials: J
authors.lastname: Kim
mesh_terms: D000230:Adenocarcinoma / Q000188:drug therapy / Q000235:genetics*; D000077548:Anaplastic Lymphoma Kinase; D005091:Exons / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008175:Lung Neoplasms / Q000188:drug therapy / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D050596:Oncogene Fusion; D015514:Oncogene Proteins, Fusion / Q000737:chemistry / Q000235:genetics*; D020794:Receptor Protein-Tyrosine Kinases / Q000737:chemistry / Q000235:genetics*; D033921:Vesicular Transport Proteins / Q000737:chemistry / Q000235:genetics*
chemical_list: D015514:Oncogene Proteins, Fusion; C507455:SEC31A protein, human; D033921:Vesicular Transport Proteins; C000626173:ALK protein, human; D000077548:Anaplastic Lymphoma Kinase; D020794:Receptor Protein-Tyrosine Kinases
keywords: Anaplastic lymphoma kinase; Genetic translocation; Lung neoplasms; SEC31A