Li Jie, Sun Pengfei, Ma Li, Min Xianhua, Ye Binqiang, Zhang Yao, Ta Weiwei, Deng Jiyun, Cao Xiangrong, Dong Chi
Department of Radiotherapy, Second Hospital Affiliated to Lanzhou University, Lanzhou, China.
Department of Pathology, Second Hospital Affiliated to Lanzhou University, Lanzhou, China.
Case Rep Oncol. 2022 Mar 18;15(1):267-276. doi: 10.1159/000522152. eCollection 2022 Jan-Apr.
Ewing sarcoma and primitive neuroectodermal tumors (ES/PNETs) are rare tumors that belong to a family of round-cell neuroectodermally derived tumors, and their optimal treatment remains a great challenge. This study presented a case of ES/PNET, arising in the esophagus of a 21-year-old female patient presented with progressive dysphagia. Computed tomography and endoscopic ultrasonography showed a well-defined, submucosal solid mass in the superthoracic esophagus. The accurate diagnosis after surgery was obtained through immunohistochemistry and genetic studies, namely the CD99 immunopositivity as well as the EWSR1/FLI1 gene rearrangement associated with t(11;22)(q24;q12) in tumor cells. The patient underwent localized tumor resection followed by chemotherapy and chest radiotherapy. The patient is doing well with no evidence of tumor recurrence or metastasis 18 months after surgery. Although the esophagus is a rare site for ES/pPNET, we can speculate that the treatment protocol of ES/pPNET should include multi-agent chemotherapy, surgery, and local radiotherapy in order to improve the prognosis based on our report.
尤因肉瘤和原始神经外胚层肿瘤（ES/PNETs）是罕见肿瘤，属于圆形细胞神经外胚层起源的肿瘤家族，其最佳治疗仍然是一项巨大挑战。本研究报告了一例ES/PNET，发生于一名21岁女性患者的食管，该患者表现为进行性吞咽困难。计算机断层扫描和内镜超声检查显示上胸段食管有一个边界清晰的黏膜下实性肿块。术后通过免疫组织化学和基因研究获得准确诊断，即肿瘤细胞中CD99免疫阳性以及与t(11;22)(q24;q12)相关的EWSR1/FLI1基因重排。患者接受了局部肿瘤切除，随后进行化疗和胸部放疗。术后18个月，患者情况良好，无肿瘤复发或转移迹象。尽管食管是ES/pPNET的罕见发病部位，但根据我们的报告，我们可以推测ES/pPNET的治疗方案应包括多药化疗、手术和局部放疗，以改善预后。
