Diagnosis and surgical management of a rare esophageal GIST: A case report and review of literature

Abstract

INTRODUCTION: Gastrointestinal stromal tumors (GISTs) are considered rare but they are common mesenchymal tumors of the digestive tract. Their occurrence in the esophagus is extremely rare, often leading to diagnostic confusion with leiomyomas, the most prevalent mesenchymal tumors in this location. CASE REPORT: We report the case of a 28-year-old woman with a 3-year history of progressive dysphagia and intermittent chest pain. Imaging revealed a compressive bilobed mass in the lower third of the esophagus. Endoscopic ultrasound and fine needle aspiration suggested an esophageal leiomyoma. Surgical enucleation via right postero-lateral thoracotomy was performed, and histopathology confirmed an 8 cm esophageal GIST with moderate risk of recurrence. Immunohistochemistry showed CD117 positivity, leading to the initiation of adjuvant Imatinib therapy. The patient remained asymptomatic at 6-month follow-up, with no evidence of recurrence. DISCUSSION: Esophageal GISTs account for less than 1 % of all GISTs and can closely mimic leiomyomas radiologically and histologically. This overlap often results in misdiagnosis. Imaging modalities and endoscopic techniques may be insufficient to distinguish between these entities. Definitive diagnosis relies on immunohistochemical markers, particularly CD117 and CD34. Surgical resection remains the mainstay of treatment, and adjuvant therapy is recommended based on risk stratification. CONCLUSION: This case underscores the importance of considering GIST in the differential diagnosis of esophageal submucosal tumors. Comprehensive histopathological and immunohistochemical analysis is essential for accurate diagnosis and appropriate therapeutic planning, especially given the implications for long-term outcomes and recurrence risk.