原发性食管旁尤文肉瘤：1例罕见病例报告及文献复习

Tarazona Noelia, Navarro Lara, Cejalvo Juan Miguel, Gambardella Valentina, Pérez-Fidalgo J Alejandro, Sempere Alejo, Navarro Samuel, Cervantes Andrés

Department of Medicine, GI and Lymphoma Unit, The Royal Marsden NHS Foundation Trust, London and Surrey, UK.

Department of Pathology, University of Valencia, Valencia, Spain.

Onco Targets Ther. 2015 May 14;8:1053-9. doi: 10.2147/OTT.S80879. eCollection 2015.

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.

尤因肉瘤是一种罕见且侵袭性很强的癌症，最常发生于20岁以下人群。我们报告了一例罕见的原发性食管旁尤因肉瘤病例，患者为一名25岁男性，其肿瘤中存在罕见的EWSR1/ERG融合转录本以及多种剪接变体。该患者对化疗完全耐药，诊断后17个月死亡。我们强调需要更好地了解该疾病的分子发病机制并改善全身治疗方案。