Unproductive effects of ALK gene amplification and copy number gain in non-small-cell lung cancer. ALK gene amplification and copy gain in NSCLC Journal Article


Authors: Marino, F. Z.; Botti, G.; Aquino, G.; Ferrero, S.; Gaudioso, G.; Palleschi, A.; Rocco, D.; Salvi, R.; Micheli, M. C.; Micheli, P.; Morabito, A.; Rocco, G.; Giordano, A.; De Cecio, R.; Franco, R.
Article Title: Unproductive effects of ALK gene amplification and copy number gain in non-small-cell lung cancer. ALK gene amplification and copy gain in NSCLC
Abstract: Background: The Anaplastic Lymphoma Kinase (ALK) gene is known to be affected by several genetic alterations, such as rearrangement, amplification and point mutation. The main goal of this study was to comprehensively analyze ALK amplification (ALK-A) and ALK gene copy number gain (ALK-CNG) in a large cohort of non-small-cell lung cancer (NSCLC) patients in order to evaluate the effects on mRNA and protein expression. Methods: ALK locus number status was evaluated in 578 NSCLC cases by fluorescence in situ hybridization (FISH). In addition, ALK immunohistochemistry and ALK mRNA in situ hybridization were performed. Results: Out of 578 cases, 17 cases showed ALK-A. In addition, 14 cases presented ALK-CNG and 72 cases presented chromosome 2 polyploidy. None of those carrying ALK-A and-CNG showed either ALK immunohistochemical expression or ALK mRNA expression through in situ hybridization. We observed a high frequency of extra copies of the ALK gene. Conclusions: Our findings demonstrated that ALK-A is not involved in mRNA production and consequently is not involved in protein production; these findings support the hypothesis that ALK-A might not play a role in the pathogenesis of NSCLC, underlining the absence of a specific clinical application. © 2020 by the authors. Licensee MDPI, Basel, Switzerland.
Keywords: immunohistochemistry; adult; controlled study; human tissue; protein expression; aged; gene mutation; major clinical study; cancer staging; protein analysis; gene amplification; histology; fluorescence in situ hybridization; messenger rna; amplification; tissue microarray; gene dosage; chromosome 2; polyploidy; non-small-cell lung cancer; alk; non small cell lung cancer; anaplastic lymphoma kinase; copy number variation; human; male; female; article; copy number gain
Journal Title: International Journal of Molecular Sciences
Volume: 21
Issue: 14
ISSN: 1422-0067
Publisher: MDPI  
Date Published: 2020-07-01
Start Page: 4927
Language: English
DOI: 10.3390/ijms21144927
PUBMED: 32664698
PROVIDER: scopus
PMCID: PMC7404032
DOI/URL:
Notes: Article -- Export Date: 3 August 2020 -- Source: Scopus
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  1. Gaetano Rocco
    130 Rocco