Document Type

Conference Proceeding

Publication Date

5-2-2025

Abstract

Gastrointestinal Stromal Tumors (GISTs) are the most common mesenchymal neoplasms found in the gastrointestinal (GI) tract, although they only account for 1-2% of gastrointestinal tumors. It is suspected that GISTs originate from the Cajal cells, necessary for regulating peristalsis. Diagnosis relies heavily on histopathologic examination, majority of GISTs being caused by an oncogenic mutation in the KIT gene, responsible for the regulation of tyrosine kinase. KIT upregulates the interstitial cells of Cajal, resulting in tumor formation. Therefore, these tumors are predominantly found in the stomach and small intestine, less frequently in colon, esophagus, and rectum. Often these neoplasms are benign, with their clinical presentations varying depending on location, with symptomatology ranging from GI bleeding, dysphagia, abdominal distension, or constipation. Primary extragastrointestinal stromal tumors (EGISTs) are rare, with 0.7% of cases being esophageal and 5.5% presenting at various locations. If found outside of the gastrointestinal system, possible presenting signs could include shortness of breath, chest pain as symptoms are often related to the organ with metastasis. Treatment includes surgical resection if possible, or in patients with metastases, adjuvant targeted therapy using tyrosine kinase inhibitors (Imatinib) can be used. A 49-year-old female with history of hypertension, migraines, malignant melanoma status-post resection, and anxiety presented to the emergency room for right sided chest pain and neck pain radiating to her back for the last 4 days. She also reported dysphagia and diarrhea. Vitals were significant for a blood-pressure of 178/89, heartrate of 105 beats/minute, afebrile, respiratory rate 18. Initial laboratory investigations were unremarkable apart from a neutrophilic leukocytosis (WBC 15.3 bil/L, Neutrophils 13.0), . Imaging completed included a chest x-ray, notable for a globular attenuation at the right cardiophrenic angle which could represent atelectasis, a diaphragmatic hernia, or a mediastinal lesion. This was followed up by a CT Chest without IV Contrast was then completed and significant for a well-circumscribed round fluid attenuating mass that measured 6.7x4.8x4.7cm adjacent to the right atrium. Following biopsy of this lesion, a diagnosis of a gastro-esophageal junction GIST with pericardial metastasis was made. She received neoadjuvant therapy with Imatinib and underwent an esophagastroduodenoscopy (EGD) robotic assisted video-assisted thoracic surgery (VATS) with pericardial cyst resection. A chest tube was placed followed by a transgastric laparoscopic robotic assisted endoluminal resection of the GIST tumor. This case represents the presence of GIST in an atypical location and the importance of pursuing further testing when there is any suspicion of malignancy. Early diagnosis of GISTs is crucial to achieve a reduction in mortality in patients with this specific neoplasm. Diagnosing Gastrointestinal Stromal Tumors presents as a challenge as they can be either asymptomatic or present with a vast array of nonspecific symptoms, often being found incidentally. Early diagnosis is key in reduction of mortality of affected patients, and depending on various factors may be at a higher risk for recurrence. This emphasizes the importance of a thorough investigation and work up if there is any suspicion of malignancy, and prompt pharmacologic and/or surgical intervention.

Comments

American College of Physicians Michigan Chapter and Society of Hospital Medicine Michigan Chapter 2025 Resident and Medical Student Day, May 2, 2025, Troy, MI

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