Novel Biomarkers in the Diagnosis of Benign and Malignant GI Diseases.

Abstract

BACKGROUND\nVarious non-invasive biomarkers have been used in the diagnosis, prognosis and treatment of different gastrointestinal (GI) diseases for years. Novel technological developments and profound perception of molecular processes related to GI diseases over the last decade has allowed researchers to evaluate genetic, epigenetic and many other potential molecular biomarkers in different diseases and clinical settings. Here we present a review of recent most relevant papers in order to summarize major findings on novel biomarkers in the diagnosis of benign and malignant GI diseases.\n\n\nSUMMARY\nGenetic variations, non-coding RNAs (ncRNAs), cell-free DNA (cfDNA), and microbiome-based biomarkers have been extensively analyzed as potential biomarkers in benign and malignant GI diseases. Multiple single nucleotide polymorphisms (SNPs) have been linked with a number of GI diseases and these observations are further being used to build-up disease specific genetic risk scores. MicroRNA and long non-coding RNAs have a large potential as non-invasive biomarkers in the management of inflammatory bowel diseases and GI tumors. Altered microbiome profiles were observed in multiple GI diseases but most of the findings still lack translational clinical application. As of today, cfDNA appears to be the most potent biomarker for early detection and screening of gastrointestinal cancers. Key messages. Novel non-invasive molecular biomarkers show huge potential as useful tools in the diagnostics and management of different GI diseases. However, the use of these biomarkers in real-life clinical practice still remains limited and further large studies are needed to elucidate the ultimate role of these potential non-invasive clinical tools.