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Background  Gastrointestinal stromal tumors (GISTs) grow relatively slowly and without specific symptoms; therefore, they are typically incidental findings. We report a rare gastric GIST in the mediastinum associated with chest discomfort and an esophageal hiatal hernia.    Case presentation  An 81-year-old woman with chest discomfort was admitted to the hospital, where barium esophagography showed a sliding esophageal hiatal hernia and a tumor of the lower esophagus and gastric wall. Esophagogastroscopy confirmed the presence of a huge submucosal tumor that extended from the lower esophagus to the gastric fundus. According to computed tomography, the mediastinal mass measured 12.7 cm and had heterogeneous low-density areas. A submucosal gastric tumor, which we suspected to be a GIST, was diagnosed in association with an esophageal hiatal hernia. Using thoracolaparotomy, we performed a total gastrectomy, a lower esophagectomy, and a Roux-en-Y reconstruction with the jejunum. The presumptive diagnosis was confirmed through immunohistochemical examination; immunostaining yielded results positive for CD34 and c-kit. The patient was discharged from the hospital 13 days after surgery with no complications and remained disease-free at follow-up 24 months after surgery.    Conclusions  GIST should be considered in the differential diagnosis of tumors growing in the mediastinum.

Giant gastrointestinal stromal tumor of the mediastinum associated with an esophageal hiatal hernia and chest discomfort: a case report