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Advances and Applications of Ion Torrent Personal Genome Machine in Cutaneous Squamous Cell Carcinoma Reveal Novel Gene Mutations

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Institute of Medicine, School of Medicine, Chung Shan Medical University, Taichung 402, Taiwan
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Department of Dermatology, Chung Shan Medical University Hospital, Taichung 402, Taiwan
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Division of Plastic Surgery, Taichung Veterans General Hospital, Taichung 407, Taiwan
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Department of Biomedical Sciences, Chung Shan Medical University, Taichung 402, Taiwan
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Institute of Microbiology and Immunology, College of Medicine, Chung Shan Medical University, Taichung 402, Taiwan
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Department of Pathology, Chung Shan Medical University Hospital, Taichung 402, Taiwan
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Department of Medical Sciences, Chung Shan Medical University Hospital, Taichung 402, Taiwan
*
Author to whom correspondence should be addressed.
Academic Editor: Subbu S. Venkatraman
Materials 2016, 9(6), 464; https://doi.org/10.3390/ma9060464
Received: 27 March 2016 / Revised: 11 May 2016 / Accepted: 8 June 2016 / Published: 14 June 2016
The Ion Torrent Personal Genome Machine (Ion PGM) is a semiconductor-based sequencing technology that is high quality, scalable, and economic. Its applications include genomic sequencing, drug resistance testing, microbial characterization, and targeted sequencing in cancer studies. However, little is known about the application of Ion PGM in cutaneous squamous cell carcinoma (cSCC). We therefore investigated the utility and validity of Ion PGM in cSCC and also gained a better understanding of the underlying molecular biology of cSCC. We detected novel gene mutations (KDR, FGFR2, and EGFR) in two cSCC patients. Moreover, we validated these mutations by pyrosequencing and Sanger sequencing. Our results indicated that the mutation screen using Ion PGM is consistent with traditional sequencing methods. Notably, these identified mutations were present at significantly higher rates in high-risk cSCC. Our results demonstrate a method to detect targetable genes in high-risk cSCC, and suggest that Ion PGM may enable therapeutic decision-making and future potential targets for personalized therapies in cSCC. View Full-Text
Keywords: ion torrent personal genome machine; next generation sequencing technology; squamous cell carcinoma ion torrent personal genome machine; next generation sequencing technology; squamous cell carcinoma
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Hsiao, Y.-P.; Lu, C.-T.; Chang-Chien, J.; Chao, W.-R.; Yang, J.-J. Advances and Applications of Ion Torrent Personal Genome Machine in Cutaneous Squamous Cell Carcinoma Reveal Novel Gene Mutations. Materials 2016, 9, 464.

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