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KMID : 0939920160480010398
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대한암학회지
2016 Volume.48 No. 1 p.398 ~ p.402
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SEC31A-ALK Fusion Gene in Lung Adenocarcinoma
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Kim Ryong-Nam
Choi Yoon-La
Lee Mi-Sook
Lira Maruja E.
Mao Mao
Mann Derrick
Stahl Joshua
Licon Abel
Choi So-Jung
Vrancken Michael Van
Han Joung-Ho
Wlodarska Iwona
Kim Jhin-Gook
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Abstract
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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.
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KEYWORD
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Lung neoplasms, Anaplastic lymphoma kinase, SEC31A, Genetic translocation
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