A Case of Esophageal Gastrointestinal Stromal Tumor Managed With Endoscopic Ultrasound Surveillance

Abstract

Gastrointestinal stromal tumors (GIST) are the most common mesenchymal tumors of the gastrointestinal tract. They are classified based on their immunohistochemical studies with the expression of c-kit and typically present between 40-50-year-olds. GIST predominantly occur in the stomach (50%) and intestine (25%), followed by the colon and rectum (10%) and rarely in the esophagus (< 5%). Due to the rarity of esophageal GIST (ESOGIST), they are poorly understood and there is a paucity of research evaluating tumor characteristics and management. Our patient is an 83-year-old Hispanic male with a history of prior esophageal impactions due to known Schatzki's rings, presenting with postprandial vomiting. He denies any constitutional symptoms, dysphagia or odynophagia. His initial physical exam and labs are unremarkable. Endoscopy on admission shows a Schatzki's ring at the gastroesophageal junction and new 5mm nodule in the distal esophagus with three ulcers in the esophagus, stomach and duodenum respectively. Pathology of the nodule demonstrates squamous cell mucosa with smooth muscle bundles positive for desmin and negative for S100. Stomach biopsy is positive for H. pylori, which is treated with triple therapy. Endoscopic ultrasound (EUS) guided fine needle aspiration shows a spindle cell neoplasm that is C-kit, DOG-1, and SMA positive and desmin negative. Management of lesions < 2cm are controversial. Thus, given the tumor size and no high risk features on EUS, shared-decision-making was utilized to pursue management with EUS surveillance and planned resection if progressive. ESOGIST is uncommon and comprises less than 1% of all GIST. For lesions < 2cm with suspicious features on EUS, resection is indicated. Surgical resection is also directed for localized ESOGIST ≥2cm or which are symptomatic, with increased overall survival and disease-free survival with adjuvant Imatinib therapy. Enucleation is recommended for management of small tumors (2-5cm) with esophagectomy recommended for tumors >90mm. More research on the management of tumors between 60-90mm needs to be conducted. For larger tumors preoperative Imatinib therapy should be considered. This can improve resectability and is also the standard of therapy when surgery is contraindicated. This case is unique given the rarity of EOSGIST, and highlights the importance of further research on the management of these tumors to establish continued guidelines for care.