Abstract

Gastrointestinal stromal tumors (GISTs) are the most common tumors of mesenchymal origin in the gastrointestinal tract. These tumors are believed to arise from the interstitial cells of Cajal. The oncogenic activation of KIT or platelet-derived growth factor receptor–α is common to these tumors, and GISTS are considered to be a successful model for rational development of personalized treatments against oncogenic driver mutations in cancer. This review covers the epidemiology, etiology and genetics, pathophysiology and pathogenesis, diagnosis, differential diagnosis, treatment, complications, and prognosis of GISTs. Figures show KIT primary and secondary mutations, the clinical and molecular progression of GISTs, a contrast-enhanced computed tomographic scan showing a gastric GIST presenting as a huge abdominal mass, a magnetic resonance image showing a rectal GIST at baseline and responding to neoadjuvant imatinib after 8 months of treatment, and hematoxylin-eosin stain of a fusocellular and an epithelioid GIST. Tables list demographics and clinical characteristics, associated genetic syndromes, relevant differential diagnosis, risk stratification systems used in GIST, and the comparative activity of approved regimens for GIST. This review contains 5 highly rendered figures, 5 tables, and 74 references.

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