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Epidemiology, classification, clinical presentation, prognostic features, and diagnostic work-up of gastrointestinal stromal tumors (GIST)

Authors
Jeffrey Morgan, MD
Chandrajit P Raut, MD, MSc, FACS
Anette Duensing, MD
Vicki L Keedy, MD, MSCI
Section Editors
Kenneth K Tanabe, MD
Robert Maki, MD, PhD
Alberto S Pappo, MD
Deputy Editor
Diane MF Savarese, MD

INTRODUCTION

Stromal or mesenchymal neoplasms affecting the gastrointestinal tract typically present as subepithelial neoplasms, and they are divided broadly into two groups. The most common group consists of gastrointestinal stromal tumors (GISTs). These neoplasms are most often located in the stomach and proximal small intestine, but they can occur in any portion of the alimentary tract and occasionally in the omentum, mesentery, and peritoneum [1-5]. GISTs are identified mainly by expression of the KIT protein and frequently harbor activating mutations in the KIT or platelet-derived growth factor receptor alpha (PDGFRA) genes.

A far less common group of mesenchymal gastrointestinal tract neoplasms is comprised of a spectrum of tumors that are identical to those that might arise in the soft tissues throughout the rest of the body. These include lipomas, liposarcomas, leiomyomas, true leiomyosarcomas, desmoid tumors, schwannomas, and peripheral nerve sheath tumors [6].

The epidemiology, classification, molecular pathogenesis, and diagnostic workup of localized GISTs will be reviewed here. Treatment for GISTs is discussed elsewhere. (See "Tyrosine kinase inhibitor therapy for advanced gastrointestinal stromal tumors" and "Adjuvant and neoadjuvant imatinib for gastrointestinal stromal tumors" and "Local treatment for gastrointestinal stromal tumors, leiomyomas, and leiomyosarcomas of the gastrointestinal tract".)

EPIDEMIOLOGY

Despite the fact that GISTs are the most common nonepithelial neoplasms involving the gastrointestinal tract, mesenchymal tumors only constitute approximately 1 percent of primary gastrointestinal cancers [2,3]. While the incidence was difficult to assess in earlier years because of the lack of diagnostic criteria, studies over the past decade or so place this in the range of 7 to 15 cases per million population per year [7-14]. As an example, a Surveillance, Epidemiology, and End Results (SEER) analysis of histologically confirmed GISTs after the implementation of a GIST-specific histology code identified 6142 cases diagnosed between 2001 and 2011, with an incidence of 0.68 per 100,000. [10]. Moreover, a prospective study of the population in the French Rhone Alps region conducted in 2005 to 2007 reported a crude incidence of GIST of 11.2 per million per year [15].

It is important to note, however, that autopsy data suggest that the frequency of incidentally detected subcentimeter gastric GIST lesions may be much higher than previously estimated. Two studies examining consecutive autopsy specimens found small GISTs (sized <1 mm to 1 cm) in 22.5 to 35 percent of the cases, respectively [16,17]. All lesions shared typical GIST immunohistochemical (positive for KIT and CD34 expression) and molecular features (KIT or platelet-derived growth factor receptor alpha [PDGFRA] mutation in up to 50 percent of the cases for which sufficient DNA was available), and almost all lesions were located in the upper stomach. Some have suggested that given the relatively low annual incidence of clinically diagnosed GISTs, only a few microscopic tumors may grow to a clinically relevant size with malignant potential [15]. Further studies are needed to confirm these observations and to clarify the genetic events responsible for the transformation of microscopic GIST lesions into clinically relevant GISTs.

                               
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Literature review current through: Nov 2017. | This topic last updated: Nov 06, 2017.
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