Division of Gastroenterological, Department of Surgery, General and Transplant Surgery, Jichi Medical University, 3311-1, Tochigi, Yakushiji Shimotsuke, 329-0498, Japan.
Department of Pathology, Jichi Medical University, 3311-1, Tochigi, Yakushiji Shimotsuke, 329-0498, Japan.
BMC Gastroenterol. 2020 Apr 15;20(1):105. doi: 10.1186/s12876-020-01266-3.
Capicua transcriptional repressor (CIC) -rearranged sarcoma is characterized by small round cells, histologically similar to Ewing sarcoma. However, CIC-rearranged sarcoma has different clinical, histological, and immunohistochemical features from Ewing sarcoma. It is important to differentiate between these tumors.
The patient is a 44-year-old man with a duodenal tumor diagnosed in another hospital who presented with a history of melena. Laboratory studies showed anemia with a serum hemoglobin of 6.0 g/dL. He was hospitalized and gastrointestinal bleeding was controlled successfully with endoscopy. However, he suffered from appetite loss and vomiting and progression of anemia a few weeks after presentation. Upper gastrointestinal endoscopy showed a circumferential soft tumor in the second portion of the duodenum and the endoscope could not pass distally. Computed tomography scan showed a greater than 10 cm tumor in the duodenum, with compression of the inferior vena cava and infiltrating the ascending colon. A definitive pathologic diagnosis could not be established despite four biopsies from the tumor edge. Due to gastrointestinal obstruction and progression of anemia, a pylorus-preserving pancreaticoduodenectomy with partial resection of the inferior vena cava and right hemicolectomy was performed as a complete tumor resection. The tumor was diagnosed as a CIC-rearranged sarcoma, but 2 months postoperatively local recurrence and distant metastases to the liver and lung were found. The patient died 3 months after surgery.
Although the only definitive treatment for CIC-rearranged sarcoma is surgical resection, the CIC-rearranged sarcoma is highly malignant with a poor prognosis even after radical resection. More research is needed to establish optimal treatment strategies.
Capicua 转录抑制因子（CIC）-重排肉瘤的特征是小圆细胞，组织学上类似于尤因肉瘤。然而，CIC-重排肉瘤与尤因肉瘤在临床、组织学和免疫组织化学特征上有所不同。区分这些肿瘤很重要。
患者为 44 岁男性，在另一家医院诊断为十二指肠肿瘤，以黑便就诊。实验室检查显示贫血，血清血红蛋白为 6.0g/dL。他住院后，通过内镜成功控制了胃肠道出血。然而，他在就诊后几周出现食欲减退、呕吐和贫血加重。上消化道内镜显示十二指肠第二段有环形软肿瘤，内镜无法向远端通过。计算机断层扫描显示十二指肠内大于 10cm 的肿瘤，压迫下腔静脉并浸润升结肠。尽管从肿瘤边缘进行了四次活检，但仍未能明确明确的病理诊断。由于胃肠道梗阻和贫血加重，进行了保留幽门的胰十二指肠切除术，部分下腔静脉和右半结肠切除术，以实现肿瘤完全切除。肿瘤被诊断为 CIC-重排肉瘤，但术后 2 个月发现局部复发和肝、肺远处转移。患者在手术后 3 个月死亡。
尽管 CIC-重排肉瘤的唯一确定性治疗方法是手术切除，但即使在根治性切除后，CIC-重排肉瘤也是高度恶性的，预后不良。需要进一步研究以确定最佳治疗策略。
