A Systematic Review on the Clinical Diagnosis of Gastrointestinal Stromal Tumors

Background: The aim of this work was to assess the prevalence of symptoms of gastrointestinal stromal tumors (GISTs) and the diagnostic yield of clinical procedures for its diagnosis.

Methods: Medical databases were consulted between 1998 and 2006 for potentially relevant publications. All studies dealing with the clinical presentation of GIST and related diagnostic procedures were included. Two researchers worked independently on the study selection, quality assessment, data extraction, and analysis phases of the study.

Results: Forty-six observational studies were included with a total of 4,534 patients. Gastrointestinal bleeding was the most common clinical presentation. Twenty studies provided adequate information on the diagnostic yield of various procedures. The pooled diagnostic yield of endoscopy + mucosal biopsy and of intestinal contrast radiography was 33.8% (0-100%) and 35.1% (11-100%), respectively, while that of EUS and that of EUS-FNA was 68.7% (40-100%) and 84.0% (73.8-100%), respectively. Abdominal CT scan and MRI had similar pooled diagnostic yields: 73.6% (34.8-100%), and 91.7% (75-100%), respectively.

Conclusion: Endoscopy + mucosal biopsy should be reserved to patients with gastrointestinal bleeding. EUS-FNA provides direct visualization of the neoplasm and adequate samples for molecular diagnosis. EUS, abdominal CT and MRI may be considered valid alternatives whenever EUS-FNA is unavailable or a cytological diagnosis is unnecessary.