Primary paraesophageal Ewing’s sarcoma: an uncommon case report and literature review

Abstract

Noelia Tarazona,1,* Lara Navarro,2,* Juan Miguel Cejalvo,3,* Valentina Gambardella,3,* J Alejandro Pérez-Fidalgo,3 Alejo Sempere,2 Samuel Navarro,2 Andrés Cervantes31Department of Medicine, GI and Lymphoma Unit, The Royal Marsden NHS Foundation Trust, London and Surrey, UK; 2Department of Pathology, 3Department of Hematology and Medical Oncology, Biomedical Research Institute, INCLIVA, University of Valencia, Valencia, Spain*These authors contributed equally to this workAbstract: Ewing’s sarcoma is a rare and highly aggressive cancer most frequently arising in people under 20 years of age. We report an uncommon case of primary paraesophageal Ewing’s sarcoma in a 25-year-old male harboring the infrequent EWSR1/ERG fusion transcript with multiple splice variants coexisting in the same tumor. The patient was totally refractory to chemotherapy and died 17 months after diagnosis. We underscore the need for better understanding of the molecular pathogenesis of the disease and improved systemic therapy options.Keywords: Ewing’s sarcoma, recurrence, immunohistochemistry, fusion genes