Symptomatic Esophageal Granular Cell Tumor in a Young Female

Abstract

Introduction: Granular cell tumors (GCTs) are rare forms of submucosal tumors that are infrequently found in the gastrointestinal tract (10% cases). However, in the gastrointestinal tract, the esophagus is the most commonly involved site (65% cases). Most GCTs are benign, asymptomatic, and less than 5 mm in size. Larger lesions are more likely symptomatic and have a higher malignant potential. We present the case of a young female with unresolving epigastric symptoms and weight loss caused by esophageal GCT which was diagnosed on endoscopic biopsy. Case Description: A 28-year-old, Caucasian, non-smoking female with no significant medical or family history was referred due to epigastric discomfort for 6 months. This was associated with a burning sensation and 15 pounds weight loss. She denied dysphagia, nausea, vomiting, blood in the stool, changes in her appetite or bowel habit. She had regular menses. Prior to presentation the patient was empirically treated with maximal doses of proton pump inhibitors, H 2 blockers and for Helicobacter pylori with no relief of symptoms. At current presentation, physical exam was unremarkable. All laboratory results including blood counts, amylase, lipase, and routine chemistries were within normal limits. In view of her history of significant weight loss and unresolving symptoms, endoscopy was performed. This revealed a 5 mm, whitish, submucosal nodule in the distal esophagus with positive biomarker staining (Figure 1a and 1b) suggestive of GCT. Subsequently, she underwent endoscopic mucosal resection of the lesion that resulted in complete resolution of symptoms.FigureDiscussion: GCTs are more frequent in males with a mean age at diagnosis of 45 years. They are often benign, asymptomatic, and usually less than 5 mm in size. They are most commonly found incidentally on endoscopy with an estimated incidence of 0.033%, representing about 1% of benign esophageal tumors. Although considered to be benign, GCTs have a malignant potential. The symptoms, if any, are often mild and include dysphagia, nausea, and burning sensation. Endoscopic mucosal resection is the recommended treatment especially if the lesions are >1 cm. There has been no described recurrence and prognosis is excellent. Although rare, it is important to consider GCT as a differential, especially in young patients presenting with mild, non-specific symptoms.