Abstract
Gastrointestinal stromal tumours (GISTs) are rare mesenchymal lesions accounting for only 0.2% of all gastrointestinal neoplasms. These tumors arise from the interstitial cells of Cajal, with mutations described in proto-oncogenes such as KIT, PDGFRA, DOG-1, and SDH. The majority of these lesions are asymptomatic, thus the true incidence remains unknown. While patients typically undergo initial endoscopy, CT scan and/or MRI, findings are often nonspecific and require a biopsy to identify the tumor. As such, immunohistochemical evaluation is the gold-standard for the accurate diagnosis of GIST. Though surgical excision remains the gold-standard for curative management, the discovery of imatinib, a tyrosine kinase inhibitor (TKI), has revolutionized the treatment of GIST in the 21st century as a “prototype” of molecular targeted therapy for solid tumors. Risk assessment for recurrence divides these tumors into low and high-risk categories. In the latter, a role for adjuvant therapy with TKI confers a significantly better prognosis than previously observed. However, secondary mutations conferring drug resistance remain an ongoing challenge for management, as few alternative treatment options are available for patients intolerant/refractory to TKI therapy. In this review, we summarize the epidemiology, molecular pathogenesis, clinical presentation, diagnosis, pathology features, management options, and prognostic features of GISTs.
Highlights
The term “gastrointestinal stromal tumor (GIST)” was first introduced in 1983 by Mazur and Clark to describe tumors lacking smooth muscle differentiation or immunohistochemical features of Schwann cells [4]
The recognition that GIST is a disease driven by an oncogenic kinase mechanism and the development of novel targeted tyrosine kinase inhibitors such as imatinib mesylate (Gleevec), has revolutionized the clinical understanding and management of GIST in the 21st century
Accurate recognition of GIST by the expression of CD117 (c-kit) and/or DOG-1 clearly defines this family of tumors
Summary
A systematic review of the published medical literature for English-language articles using PubMed and Medline was carried out using the search terms: “gastrointestinal stromal tumor” and “GIST” with a special emphasis on review articles. Secondary references obtained from these publications were reviewed as appropriate. Selected relevant abstracts from key oncology meetings were reviewed. We limited our search to reports published since January 1, 2000 as GIST was not a generally recognized tumor entity prior to this time
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