Clinical significance of the molecular heterogeneity of gastrointestinal stromal tumors and related research: A systematic review

Abstract

Gastrointestinal stromal tumors (GISTs) are the most commonly observed mesenchymal tumors of the digestive tract, and they originate from the interstitial cells of Cajal. GISTs can be divided into KIT/PDGFRA-mutant GISTs and wild-type GISTs based on the presence or absence of KIT/PDGFRA mutations. Wild-type GISTs can be divided into succinate dehydrogenase complex (SDH)-deficient GISTs and non-SDH-deficient GISTs. Downstream signaling pathways activated by these mutations serve a pivotal role in the development of GISTs and are associated with the biological behavior, including risk stratification, clinical prognosis and drug resistance. Accurate medical care requires accurate molecular diagnosis, which in turn prolongs the survival of patients with GISTs and makes GIST a chronic disease. At present, there is a lack of effective treatment for imatinib/sunitinib/regorafenib resistant patients and KIT/PDGFRA-WT GISTs, which is undoubtedly a major challenge for future research. The present review summarizes the molecular pathogenesis of GISTs and the progress of related research.