Next Generation Sequencing for Gene Fusion Analysis in Lung Cancer: A Literature Review
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Unit of Pathological Anatomy, University Hospital of Pisa, Via Roma 67, 56126 Pisa, Italy
2
Department of Surgical, Medical, Molecular Pathology and Critical Area, University of Pisa, Via Savi 10, 56126 Pisa, Italy
*
Author to whom correspondence should be addressed.
Diagnostics 2020, 10(8), 521; https://doi.org/10.3390/diagnostics10080521
Received: 28 May 2020
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Revised: 16 July 2020
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Accepted: 18 July 2020
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Published: 27 July 2020
(This article belongs to the Special Issue Lung Cancer Molecular Pathology)
Gene fusions have a pivotal role in non-small cell lung cancer (NSCLC) precision medicine. Several techniques can be used, from fluorescence in situ hybridization and immunohistochemistry to next generation sequencing (NGS). Although several NGS panels are available, gene fusion testing presents more technical challenges than other variants. This is a PubMed-based narrative review aiming to summarize NGS approaches for gene fusion analysis and their performance on NSCLC clinical samples. The analysis can be performed at DNA or RNA levels, using different target enrichment (hybrid-capture or amplicon-based) and sequencing chemistries, with both custom and commercially available panels. DNA sequencing evaluates different alteration types simultaneously, but large introns and repetitive sequences can impact on the performance and it does not discriminate between expressed and unexpressed gene fusions. RNA-based targeted approach analyses and quantifies directly fusion transcripts and is more accurate than DNA panels on tumor tissue, but it can be limited by RNA quality and quantity. On liquid biopsy, satisfying data have been published on circulating tumor DNA hybrid-capture panels. There is not a perfect method for gene fusion analysis, but NGS approaches, though still needing a complete standardization and optimization, present several advantages for the clinical practice.
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MDPI and ACS Style
Bruno, R.; Fontanini, G. Next Generation Sequencing for Gene Fusion Analysis in Lung Cancer: A Literature Review. Diagnostics 2020, 10, 521. https://doi.org/10.3390/diagnostics10080521
AMA Style
Bruno R, Fontanini G. Next Generation Sequencing for Gene Fusion Analysis in Lung Cancer: A Literature Review. Diagnostics. 2020; 10(8):521. https://doi.org/10.3390/diagnostics10080521
Chicago/Turabian StyleBruno, Rossella, and Gabriella Fontanini. 2020. "Next Generation Sequencing for Gene Fusion Analysis in Lung Cancer: A Literature Review" Diagnostics 10, no. 8: 521. https://doi.org/10.3390/diagnostics10080521
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