Identification of a novel fusion in esophageal gastrointestinal stromal tumours: A case report.

Background: Gastrointestinal stromal tumours (GISTs) rarely arise in the esophagus. The clinical course and treatment options for esophageal GISTs are poorly understood because of their rarity. In general, the mutation spectrum of esophageal GISTs resembles that of gastric GISTs. GISTs lacking and gene mutations occasionally occur in adults; primary esophageal GISTs are commonly .

Case Presentation: Herein, we report the case of a 41-year-old female patient who presented with a 1-week history of anterior upper chest pain. Chest computed tomography revealed a 3.7 cm × 2.8 cm × 6.7 cm soft tissue mass in the right posterior mediastinum adjacent to the esophagus. The patient underwent thoracoscopic mediastinal tumor resection and was subsequently diagnosed with an esophageal GIST. Neither nor mutations were detected by Sanger sequencing; however, next-generation sequencing (NGS) identified an gene fusion in the tumor tissue. No relapse was observed in this patient during the 8-month treatment-free follow-up period.

Conclusion: To the best of our knowledge, this report is the first to describe an fusion in a patient with a quadruple esophageal GIST. When GISTS are suspected, intensive genetic analysis is recommended, and obtaining a better molecular characterization of these tumours might reveal novel therapeutic avenues.