47 Journal of Transdisciplinary Biomedicine (2017) Volume 1 Issue 1, pp.47-52. doi: 1024294/jtb.v1i1.5 Short Communication Molecular profling of genetic alterations in selected non-small cell lung cancer on formalin-fxed paraffn-embedded tissue specimens Tiffany SY Ng 1 , Pathmanathan Rajadurai 2 , and Yoke Kqueen Cheah 1,3,4* 1 Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, Serdang, Selangor Darul Ehsan, Malaysia 2 School of Medicine, Monash University, Bandar Sunway, Subang Jaya, Selangor Darul Ehsan, Malaysia 3 Institute of Bioscience, Universiti Putra Malaysia, Serdang, Selangor Darul Ehsan, Malaysia 4 Centre for Diagnostic Nuclear Imaging, Universiti Putra Malaysia, Serdang, Selangor Darul Ehsan, Malaysia ABSTRACT Lung cancer arises as a result of multiple genetic alterations and environmental influences such as cigarette smoking, radiation and air pollution. Molecular classification of these alterations may help in the development of individualised anticancer therapies. In this study, Ion Torrent technology was used to sequence genomic material extracted from formalin-fixed paraffin-embedded (FFPE) tumours. Multiple genetic variants were identifed in each tumour sample. About 65% of the identifed mutations occurred in the epidermal growth factor receptor (EGFR) and phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha (PIK3CA) genes. Results from this study demonstrate the feasibility of using FFPE material in next-generation sequencing (NGS). In conclusion, specifc key mutations associated with human cancers are identifed. Keywords: NGS; Ion Torrent; FFPE; mutations; lung cancer ARTICLE INFO Received: 17 th April 2017 Accepted: 20 th July 2017 Available online: 27 th July 2017 *CORRESPONDING AUTHOR Yoke Kqueen Cheah, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, 43400 Serdang, Selangor Darul Ehsan, Malaysia; ykcheah@upm.edu.my CITATION Tiffany SYN, Padmanathan R, Cheah YK. Molecular profling of genetic alterations in selected non-small- cell lung cancer on formalin-fxed paraffn-embedded tissue specimens. J Transdiscip Biomed 2017; 1(1): 47–52. doi: 10.24294/jtb.v1i1.5. COPyRIGHT Copyright © 2017 by author(s) and EnPress Publisher LLC. This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International License (CC-BY-NC- ND 4.0). http://creativecommons.org/ licenses/by-nc-nd/4.0/ Introduction Multiple genetic alterations have been identifed in the tumorigenesis of lung cancer [1] . Studies have shown that cancers carry multiple genetic and epigenetic changes, indicating activation of oncogenes and inactivation of tumour suppressor genes during the process of tumorigenesis leading to the development of lung cancer [2] . Treatment options vary for non-small- cell lung cancer (NSCLC) harbouring different mutations; therefore, the characterization of these genetic alterations is important in the development of personalised therapy of NSCLC. Information of genetic alterations in human cancers has made it possible to classify tumours according to the driver mutations they harbour with regard to the molecular pathways activated or inactivated by these genetic alterations, and serve as predictive biomarkers, thus influencing the type of therapeutic agents to be used in management [3] . In recent years, a revolution in sequencing technologies had taken place. Next-generation sequencing (NGS) has now been widely applied in various research settings such as whole genome sequencing, targeted deoxyribonucleic acid (DNA) sequencing, ribonucleic acid (RNA) se- quencing, and epigenomics [4] . Major discoveries from NGS have reported to provide better insights into the complexities of the NSCLC genome. For example, lung tumours have been shown to harbour multiple genetic and epigenetic aberrations (>20 per tumour) [5] . This paper describes the use of Ion Torrent (Life Technologies) NGS platform on selected formalin-fxed paraffn-embedded (FFPE) tumour from NSCLC patients and the results obtained from NGS analysis.