Lung Adenocarcinoma Gene Mutation in Koreans Detection Using Next Generation Sequence Analysis Technique and Analysis of Concordance with Existing Genetic Test Methods

Abstract

Lung adenocarcinoma accounts for about 40% of all lung cancers. With the recent development of gene profiling technology, studies on mutations in oncogenes and tumor suppressor genes, which are important for the development and growth of tumors, have been actively conducted. Companion diagnosis using next-generation sequencing helps improve survival with targeted therapy. In this study, formalin-fixed paraffinembedded tissues of non-small cell lung cancer patients were subjected to hematoxylin and eosin staining to detect genetic mutations that induce lung adenocarcinoma in Koreans. Immunohistochemical staining was also performed to accurately classify lung adenocarcinoma tissues. Based on the results, next-generation sequencing was applied to analyze the types and patterns of genetic mutations, and the association with smoking was established as the most representative cause of lung cancer. The results of next-generation sequencing analysis confirmed the single nucleotide variations, copy number variations, and gene rearrangements. To validate the reliability of next-generation sequencing, we additionally performed  the existing genetic testing methods (polymerase chain reaction-epidermal growth factor receptor, immunohistochemistry-anaplastic lymphoma kinase [D5F3], and fluorescence in situ hybridization-receptor tyrosine kinase 1 tests) to confirm the concordance rates with the next-generation sequencing test results. This study demonstrates that next-generation sequencing of lung adenocarcinoma patients simultaneously identifies mutation.