Hematology/Oncology Division, Department of Internal Medicine, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA.
Int J Clin Oncol. 2012 Aug;17(4):399-406. doi: 10.1007/s10147-011-0311-6. Epub 2011 Sep 3.
The Ewing's family of tumors (EFT) comprises a molecularly defined group of "small round blue cell tumors", consisting of Ewing's sarcoma of bone (ESB), extraosseous Ewing's sarcoma (EES), peripheral primitive neuroectodermal tumor (pPNET), and Askin's tumor. Characteristic translocations that disrupt the EWSR1 gene located at 22q12 create novel fusion genes that are central to the pathogenesis. The EFT also shares certain clinical characteristics, such as a peak incidence during the teenage years, a tendency to spread rapidly, and responsiveness to the same chemotherapeutic regimens and radiation therapy. Nearly all patients have occult disseminated disease at diagnosis; hence, chemotherapy is routinely used. Improvements in multimodality treatment have had a dramatic impact on outcomes. EES/pPNET has been reported in a variety of sites, including the pancreas, though this is extremely rare. We describe a case of pancreatic EES/pPNET in a 35-year-old woman and provide a brief review of the relevant literature.
尤文氏家族肿瘤（EFT）由一群分子定义明确的“小圆蓝细胞肿瘤”组成，包括骨尤文肉瘤（ESB）、骨外尤文肉瘤（EES）、外周原始神经外胚层肿瘤（pPNET）和 Askin 瘤。特征性易位破坏位于 22q12 的 EWSR1 基因，产生对发病机制至关重要的新融合基因。EFT 还具有某些临床特征，例如青少年时期发病高峰、快速扩散倾向以及对相同化疗方案和放射治疗的反应性。几乎所有患者在诊断时都有隐匿性播散性疾病，因此常规使用化疗。多模式治疗的改进对结果产生了巨大影响。EES/pPNET 已在多种部位报道，包括胰腺，但极为罕见。我们描述了一例 35 岁女性胰腺 EES/pPNET，并简要复习了相关文献。
