Squamous Cell Carcinoma of the Esophagus Presenting as a Submucosal Mass

Abstract

Introduction: Subepithelial lesions (SELs) of the GI tract originate from below the epithelial layer and most are found incidentally during EGD; however, some may be symptomatic. SELs of the esophagus are usually benign. We present a patient with dysphagia due to an esophageal subepithelial mass, ultimately diagnosed as an esophageal squamous cell cancer. Case report: A 61 year-old male with a history of hypertension and coronary artery disease presented to the emergency department with a 3-week history of progressive dysphagia to solids and subsequently liquids. He also reported a 15-pound weight loss. He had a 60 pack-year smoking history, and quit 1 year prior to presentation. He also stated excessive alcohol use in the past. Family history included a brother with lung cancer and an uncle with esophageal cancer. Physical examination was unremarkable. Hemoglobin was 11.5 g/dl and albumin 3.9 g/dl. CT of neck showed an upper esophageal mass with an enlarged left supraclavicular node. EGD showed a large intraluminal submucosal esophageal mass at 20 cm, with near-complete occlusion of the lumen. The gastroscope could not be passed beyond the lesion. “Deep-well” biopsies of the mass were obtained which showed normal squamous epithelium. Subsequently, he underwent an endoscopic ultrasonography (EUS) revealing a poorly circumscribed hypoechoic subepithelial mass, measuring 4.3 x 3.2 cm, originating from the submucosa with an intact muscularis propria. No adjacent lymphadenopathy was identified at the level of the lesion. Cytology obtained by fine-needle aspiration (FNA) was consistent with squamous cell carcinoma (SCC). CT of chest and abdomen showed mediastinal, axillary and celiac axis lymphadenopathy, without any distant organ metastases. The patient underwent a surgical gastrostomy tube placement with a plan for chemoradiation therapy. Discussion: Differential diagnoses of esophageal SELs include leiomyoma, leiomyosarcomas, gastrointestinal stromal tumor, granular cell tumor, glomus tumor, lipoma, carcinoid tumors, cysts, varices or extrinsic compression. Forceps biopsies are inadequate for diagnosis due to normal overlying mucosa thus necessitating EUS/FNA which has a diagnostic accuracy reaching 80%. Esophageal SELs are rarely malignant and are treated only when symptomatic with endoscopic/surgical excision. While SCC is primarily mucosal in origin presenting with an ulcerating lesion, intramural SCC is an exceedingly rare condition, with only a few cases reported in the English literature. As our case illustrates, esophageal SELs can be a very atypical presentation of SCC that could be included in the differential diagnosis.