“An RNA-seq analysis from non-small cell lung cancer biopsies suggests an important role for aberrant alternative splicing in its pathophysiology”

Abstract

Lung cancer accounts for the highest fatalities amongst cancers worldwide. Within the frames of the Metaboli-Ca project, we explored the effects of non-small cell lung cancer (NSCLC) by utilizing next generation sequencing (NGS) technologies. Here, we update and expand our previous work; exploiting RNA sequencing data for the derivation of differentially expressed genes and alternatively spliced genes in cancer cells compared to the adjacent normal tissue and carry out functional analysis to discover the underlying molecular mechanisms altered in cancer cells. We used our established pipeline for quantitative analysis, which utilizes a range of state-of-the-art tools, and investigated the modifications performed in cancer cells. A significant number of 1449 genes were found as differentially expressed, while 368 genes as alternatively spliced. Focusing in alternative splicing events, a number of important molecular mechanisms emerged, such as proteasome functionality, stemness, and regulation of mitosis. Our analysis suggests several molecular players that could enhance the understanding of NSCLC pathophysiology.