S2114 IgG4-Related Disease: An Uncommon Location

Abstract

Introduction: Granular cell tumors (GCTs) of the esophagus are rare and benign neoplasms of neural cell origin. The lesions are often incidentally identified during upper endoscopic evaluation for other indications. We report a case of esophageal GCT in a young patient who presented with heartburn. Case Description/Methods: A 29-year-old white woman with a history of bulimia nervosa, gastroesophageal reflux disease, and chronic diarrhea following a recent COVID-19 infection presented to the clinic with heartburn and regurgitation that had been ongoing for years. She recently switched her omeprazole to famotidine to prepare for conception, which made her symptoms worse. Her physical examination and laboratory investigations were unremarkable. Esophagogastroduodenoscopy showed a single 6 mm yellowish, firm, submucosal nodule in the distal esophagus (Fig. 1A) and chronic gastritis. The nodule was biopsied with cold forceps and proved to be a granular cell tumor (Fig. 1B). The granular cell tumor cells were negative for pan-cytokeratin and positive for S100 (Fig 1C). They were negative for CD45 and Synaptophysin by immunohistochemistry staining. Biopsy of the distal esophagus also confirmed a short segment of Barrett's esophagus without dysplasia. Gastric body and antrum biopsy showed mild chronic gastritis negative for Helicobacter pylori. She was scheduled for an endoscopic ultrasound followed by possible endoscopic mucosal resection. Discussion: Even though esophageal GCTs are benign incidental findings, they have malignant potential (1-4%). Mortality is related to the size, growth, and invasiveness of the tumor. Indications for endoscopic or surgical resection are large size ≥ 1 cm, rapid growth, high suspicion of malignancy, transmural infiltration, and persistent symptoms. Endoscopic resection techniques include endoscopic mucosal resection and submucosal tunnel endoscopic resection. The later is more preferred in lesions < 3 cm. One study reported no recurrence of esophageal GCTs after resection in 14 cases at a median of 4-year follow-up.