A Plunging Case of Intermittent Dysphagia

Abstract

Question: A 71-year-old woman with a history of gastroesophageal reflux disease and chronic intermittent dysphagia presented with progressively worsening dysphagia for solid foods over the past three days. The patient also complained of reflux, without weight loss, and has never had food impaction requiring bolus removal. Upon presentation, the patient denied any nausea, vomiting, abdominal pain. Laboratory results were unremarkable. Esophagogastroduodenoscopy (EGD) 6 months before admission was unremarkable. However, current endoscopy revealed a large, 4- to 5-cm subepithelial lesion in the mid esophagus at around 30 cm from the incisors. The lesion appeared smooth with normal overlying smooth tissue and no obvious ulcerations (EGD; Figure A). As the scope passed, the lesion plunged into the stomach, shown with the scope retroflexed (EGD; Figure B). CT of the chest with and without contrast confirmed the presence of a large submucosal mass 5.5 cm in width in the distal esophagus. Biopsy was performed under endoscopic ultrasonography (EUS; Figure C) with subsequent histology demonstrating a spindle cell neoplasm, combined with immunohistochemical analysis positive for CD117 (C-Kit) and negative for HMB-45. No extraesophageal masses were identified. What is the diagnosis? See the Gastroenterology web site (www.gastrojournal.org) for more information on submitting your favorite image to Clinical Challenges and Images in GI. Gastrointestinal stromal tumors (GIST) normally present in a vague manner, and vary depending on which region of the gastrointestinal tract in involved.1Sjogren P.P. Banerji N. Batts K. et al.Rare presentation of a gastrointestinal stromal tumor with spontaneous esophageal perforation: a case report.Int J Surg Case Rep. 2013; 4: 636-639Crossref PubMed Scopus (6) Google Scholar Many present with abdominal discomfort and weight loss and, as a mass-occupying lesion, may also present as an obstruction.1Sjogren P.P. Banerji N. Batts K. et al.Rare presentation of a gastrointestinal stromal tumor with spontaneous esophageal perforation: a case report.Int J Surg Case Rep. 2013; 4: 636-639Crossref PubMed Scopus (6) Google Scholar Sixty percent of tumors arise from the stomach, with primary esophageal origin quite rare (<1%).2Demetri G.D. von Mehren M. Antonescu C.R. et al.NCCN Task Force report: update on the management of patients with gastrointestinal stromal tumors.J Natl Compr Cancer Network. 2010; 8: S1-S41Crossref PubMed Scopus (769) Google Scholar When present in the esophagus, it may result in dysphagia and mimic symptoms of gastroesophageal reflux disease. Surgery as initial therapy along with a tyrosine kinase inhibitor such as imatinib remain the standard of care for treatment.2Demetri G.D. von Mehren M. Antonescu C.R. et al.NCCN Task Force report: update on the management of patients with gastrointestinal stromal tumors.J Natl Compr Cancer Network. 2010; 8: S1-S41Crossref PubMed Scopus (769) Google Scholar, 3Miettinen M. Lasota J. Gastrointestinal stromal tumors: review on morphology, molecular pathology, prognosis, and differential diagnosis.Arch Pathol Lab Med. 2006; 130: 1466-1478Crossref PubMed Google Scholar The patient’s transient periods without dysphagia most likely correlated with times when the neoplasm was plunged into the stomach. As the neoplasm ascended back into the esophagus, the patient’s bouts of dysphagia reemerged. The patient was started on neoadjuvant chemotherapy with imatinib with future plans for operative resection. Andrew C. Berry's current affiliation is the Department of Medicine, University of South Alabama, Mobile, Alabama.