Presyncope Leading to the Diagnosis of Gastrointestinal Stromal Tumor in a Pediatric Patient

Abstract

A 16-year-old African American girl presented after a presyncopal event. Initial evaluation revealed anemia (hemoglobin 5.2 mmol/L) and positive stool hemoccult. Esophagogastroduodenoscopy revealed an ulcerated, bleeding, submucosal mass (Fig. 1). Bleeding was controlled with argon plasma coagulation. Abdominal computed tomography showed a heterogenous 6.8 cm mass at the serosal surface of the lesser curvature. Neck and thorax computed tomography did not show metastases. Endoscopic ultrasound with fine needle biopsy (Fig. 2) revealed histology consistent with a gastrointestinal stromal tumor (GIST). Laparotomy was performed with complete resection of the mass. Pediatric GISTs are rare and they account for about 1% of all GISTs (1). When suspected, endoscopic biopsy, either core needle or forceps biopsy, is the preferred method to prevent tumor spillage which is highly associated with GIST recurrence (2). Pediatric GISTs usually lack KIT or PDGFRA gene mutations, making them wild-type GISTs (3). In this case, genetic testing revealed associations with hereditary paraganglioma-pheochromocytoma syndromes (4). Prognosis is based on the mitotic rate, tumor size, and tumor site; gastric site being the most favorable (5). MRI after surgery showed no residual tumor. The patient will continue close monitoring via annual MRI, which is the preferred modality for surveillance (6).

Latest Advances in the Management of Pediatric Gastrointestinal Stromal Tumors

“…Therefore, pediatric patients should receive regular clinical examinations to detect possible extra-adrenal paraganglioma and pulmonary chondroma rapidly. During the molecular diagnostic process of pediatric GIST, associations with hereditary paraganglioma-pheochromocytoma syndromes are worth searching [ 33 , 34 ].…”