Recent advances in blood-based and artificial intelligence-enhanced approaches for gastrointestinal cancer diagnosis

Abstract

Gastrointestinal (GI) cancers are among the most common cancer types and leading causes of cancer-related deaths worldwide. There is a tremendous clinical need for effective early diagnosis for better healthcare of GI cancer patients. In this article, we provide a short overview of the recent advances in GI cancer diagnosis. In the first part, we discuss the applications of blood-based biomarkers, such as plasma circulating cell-free DNA, circulating tumor cells, extracellular vesicles, and circulating cell-free RNA, for cancer liquid biopsies. In the second part, we review the current trends of artificial intelligence (AI) for pathology image and tissue biopsy analysis for GI cancer, as well as deep learning-based approaches for purity assessment of tissue biopsies. We further provide our opinions on the future directions in blood-based and AI-enhanced approaches for GI cancer diagnosis, and we think that these fields will have more intensive integrations with clinical needs in the near future.

Keywords: Liquid biopsy; Plasma cell-free DNA; Circulating tumor cell; Extracellular vesicle; Exosome; Artificial intelligence

Core Tip: Recent studies have discovered a variety of blood-based biomarkers with great potential in improving the diagnosis and surveillance of gastrointestinal (GI) cancers. In this article, we review the latest advances in the diagnosis of various GI cancers, focusing on emerging blood-based liquid biopsy assays and artificial intelligence-enhanced approaches. We also discuss purity assessment approaches for tissue biopsies, which is an important issue in cancer studies, especially those applicable in metastatic GI cancers.