S1953 Esophageal Granular Cell Tumor: A Rare Entity

Abstract

INTRODUCTION: Esophageal Granular Cell Tumor (EGCT) is a rare condition; up to date, only 300 cases reported since 1931, it majorly affects the population between the ages of 25 to 53 years old, female-African American predominance compared to male caucasian patients. Histologically The Tumor is made of Schwann cells with granular cytoplasm, large polygonal cells, and positive for Periodic Acid Shiff (PAS) stain; In its majority, granular cell tumors appear in the skin and various other tissues, including the respiratory tract, biliary tract, and breast. Up to 8% of the cases can occur in the Gastrointestinal tract, and the esophagus is the most common location. At the moment there is no consensus regarding appropriate screening, diagnosis, and management. CASE DESCRIPTION/METHODS: The patient is a 56 year old male with a past medical history of iron deficiency anemia secondary to heavy menses, coronary artery disease, hypertension, diabetes, hyperlipidemia who was referred to the gastroenterology clinic for dyspepsia. An initial Esophagealduodenoscopy (EGD) was performed which showed an esophageal nodule noted at 35 cm (Figure 1). Endoscopic ultrasound (EUS) was then performed revealing a sub-centimeter mass on the second layer of the submucosa of benign appearance, with no adenopathy. The management plan at the time was to follow up in 1 year. Initially differential diagnosis included lipoma versus leiomyoma. A repeat EGD was then done where a biopsy was taken showing granular cell tumor (diagnosis supported by positive staining with CD68 and S100 immunostain), benign squamous mucosa, negative for intestinal metaplasia, negative for increased intraepithelial eosinophils (Figure 2). DISCUSSION: Management of EGCT is conservative for those masses < 10mm in diameter, endoscopic removal is advised for those lesions with malignant features or causing symptoms secondary to obstruction of the digestive or airway tract. Although EGCT is mainly benign, malignant transformation occurs in 1-2 % of the cases; EGD and EUS are essential to evaluate for lymph node invasion with the purpose of directing management, endoscopic resection can be performed and endoscopic surveillance is advised, although there is no consensus, the rapid development of endoscopic techniques remain the cornerstone of its management.Figure 1.: Esophagogastroduodenoscopy showing an esophageal nodule at 35cm.Figure 2.: Biopsy specimen of esophageal nodule staining positively to CD68.