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SEC31A-ALKFusion Gene in Lung Adenocarcinoma
김룡남,최윤라,이미숙,Maruja E. Lira,Mao Mao,Derrick Mann,Joshua Stahl,Abel Licon,최소정,Michael Van Vrancken,한종호,Iwona Wlodarska,김진국 대한암학회 2016 Cancer Research and Treatment Vol.48 No.1
Anaplastic lymphoma kinase (ALK) fusion is a common mechanism underlying patho- genesis 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 genera- tion 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 hybridiza- tion 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.