Wright State University Boonshoft School of Medicine Internal Medicine Residency Program Dayton, OH, United States
Lakmal Ekanayake, DO1, We'am Hussain, MD1, Niaz Usman, MD2, Syed Ali, MD2 1Wright State University Boonshoft School of Medicine Internal Medicine Residency Program, Dayton, OH; 2Dayton Gastroenterology Inc., Beavercreek, OH
Introduction: Gastrointestinal stromal tumors (GISTs) are soft tissue sarcomas that predominantly affect the stomach and small intestine. In the US, incidence is approximately 6,000 cases per year. In rare cases (< 1%) GISTs appear in the esophagus. Here, we describe an esophageal GIST presenting as achalasia at the gastroesophageal (GE) junction.
Case Description/Methods: A 62-year-old Caucasian male presented with dysphagia and regurgitation of solids and liquids. His dysphagia worsened when supine and was partially relieved by omeprazole. Past medical history was unremarkable. Initial workup for dysphagia included esophageal manometry, barium esophagram, and esophagogastroduodenoscopy (EGD). Manometry showed outflow obstruction and an elevated integrated relaxation pressure of 74.9mmHg, consistent with a type II achalasia.
The patient’s barium esophagram showed high-grade narrowing at the GE junction with severe distal esophageal stasis. EGD exhibited mild dilation of the esophageal lumen and ulceration. Chest computed tomography found a dilated esophagus with focal thickening involving the right anterolateral aspect of the distal esophagus at the level of the GE junction. Endoscopic ultrasound (EUS) with fine needle aspiration revealed isoechoic-hypoechoic focal lesions near the GE junction and lesional cells positive for CD117 and smooth muscle actin (SMA). These findings supported the diagnosis of an esophageal GIST. The patient was referred to a tertiary care center, and successful surgical myotomy and resection of the lesion was performed. Pathology revealed tumor cells diffusely positive for SMA, desmin, and DOG1. No overt signs of malignancy were demonstrated. Based on the results, the GIST tumor was classified as an epithelioid smooth muscle tumor. At six-week follow-up, his dysphagia had resolved.
Discussion: GISTs are rare in the esophagus with an incidence of less than 1%. Typically, most GISTs showcase spindle cell morphology. Importantly, 10-15% of GISTs showcase pure epithelioid origin as seen in our patient. There are few case reports of esophageal GISTs, highlighting the need for more clinical guidance. Esophageal GISTs present with a multitude of symptoms including dysphagia and achalasia while complications can include high esophageal pressure and perforation. Treatment of an esophageal GIST includes tyrosine kinase inhibitor therapy or surgical resection.
Disclosures: Lakmal Ekanayake indicated no relevant financial relationships. We''am Hussain indicated no relevant financial relationships. Niaz Usman indicated no relevant financial relationships. Syed Ali indicated no relevant financial relationships.
Lakmal Ekanayake, DO1, We'am Hussain, MD1, Niaz Usman, MD2, Syed Ali, MD2. P1388 - Esophageal Gastrointestinal Stromal Tumor With Rare Presentation as Achalasia: A Case Report, ACG 2021 Annual Scientific Meeting Abstracts. Las Vegas, Nevada: American College of Gastroenterology.
