Esophageal gastrointestinal stromal tumors (GISTs) are rare mesenchymal tumors of the gastrointestinal tract. Despite the increasing number of reported cases, systematic knowledge on this condition remains limited.

OBJECTIVE

To summarize and organize data on the epidemiology, clinical presentation, diagnosis, and treatment of esophageal GISTs.

MATERIAL AND METHODS

A systematic literature search was conducted in PubMed, Web of Science, Google Scholar, Cochrane Library, eLibrary, and CyberLeninka, covering publications from 1988 to 2024. Additional articles were identified through reference lists and manual searches.

RESULTS

A total of 1.113 articles were screened, and 59 studies (1.481 patients) were analyzed. The key findings were: esophageal GISTs predominantly affect men, with a mean age of 65 years. The condition is often diagnosed incidentally or after symptoms such as dysphagia, chest discomfort, weight loss, and bleeding. Tumors are most commonly located in the lower third of the esophagus (64%), with an average size of 6 cm. Surgical treatment was performed in 67.2% of cases, including esophagectomy (65.8%), enucleation (24.8%), esophagogastrectomy (5.7%), and subtotal esophageal resection (3.6%). Medical therapy was administered in 33.8% of cases, with neoadjuvant treatment in 44.4% and adjuvant therapy in 51.6%. The 5-year overall survival (OS) rate was 67.4%, with a median OS of 131 months. At a median follow-up of 24 months, 88% of patients remained progression-free, 8% experienced disease progression, and 4% died from the disease.

CONCLUSION

This systematic review provides a comprehensive analysis of the epidemiology, etiology, pathogenesis, clinical features, diagnosis, and treatment of esophageal GISTs. Most patients presented with tumor-related symptoms. Surgery, particularly esophagectomy and enucleation, remains the primary treatment approach, while tyrosine kinase inhibitors play a central role in medical therapy.