Jonaitis Paulius, Kiudelis Vytautas, Streleckiene Greta, Gedgaudas Rolandas, Skieceviciene Jurgita, Kupcinskas Juozas
Department of Gastroenterology and Institute for Digestive Research, Lithuanian University of Health Sciences, Kaunas, Lithuania.
Dig Dis. 2022;40(1):1-13. doi: 10.1159/000515522. Epub 2021 Mar 1.
Various noninvasive 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 have 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 and most relevant articles in order to summarize major findings on novel biomarkers in the diagnosis of benign and malignant GI diseases.
Genetic variations, noncoding 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 have been linked with a number of GI diseases, and these observations are further being used to build up disease-specific genetic risk scores. Micro-RNAs and long ncRNAs have a large potential as noninvasive 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 GI cancers. Key Messages: Novel noninvasive 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 noninvasive clinical tools.
多年来，各种非侵入性生物标志物已被用于不同胃肠道（GI）疾病的诊断、预后评估和治疗。过去十年中，新技术的发展以及对与胃肠道疾病相关分子过程的深入认识，使研究人员能够在不同疾病和临床环境中评估遗传、表观遗传及许多其他潜在的分子生物标志物。在此，我们对近期最相关的文章进行综述，以总结关于新型生物标志物在良性和恶性胃肠道疾病诊断中的主要发现。
遗传变异、非编码RNA（ncRNA）、游离DNA（cfDNA）和基于微生物组的生物标志物已被广泛分析为良性和恶性胃肠道疾病的潜在生物标志物。多个单核苷酸多态性与多种胃肠道疾病相关，这些观察结果正进一步用于构建疾病特异性遗传风险评分。微小RNA和长链非编码RNA在炎症性肠病和胃肠道肿瘤的管理中作为非侵入性生物标志物具有很大潜力。在多种胃肠道疾病中观察到微生物组谱的改变，但大多数发现仍缺乏转化临床应用。截至目前，cfDNA似乎是胃肠道癌症早期检测和筛查最有效的生物标志物。关键信息：新型非侵入性分子生物标志物作为不同胃肠道疾病诊断和管理的有用工具显示出巨大潜力。然而，这些生物标志物在实际临床实践中的应用仍然有限，需要进一步的大型研究来阐明这些潜在非侵入性临床工具的最终作用。
