Department of Neurologic Surgery, Mayo Clinic, Rochester, Minnesota, USA.
Department of Neurologic Surgery, Mayo Clinic, Rochester, Minnesota, USA.
World Neurosurg. 2020 Jul;139:12-19. doi: 10.1016/j.wneu.2020.03.158. Epub 2020 Apr 3.
Ewing-like sarcoma with capicua transcriptional repressor (CIC) rearrangement is a unique class of undifferentiated round cell sarcomas characterized by CIC-double homeobox 4 gene fusion. Despite showing great histologic resemblance to Ewing sarcomas, they have proved to be a distinct pathological entity from the immunohistochemistry and genetic examinations and the response to treatment. We have presented a case of CIC-rearranged Ewing-like sarcoma with cerebral metastasis managed with operative resection and gamma knife radiosurgery.
A 56-year-old woman had initially presented with an ulcerating lesion of the right fifth toe. The histological and immunohistochemical analysis revealed features consistent with CIC-rearranged Ewing-like sarcoma, which was confirmed with genetic analysis. Despite aggressive local control and a multidrug chemotherapy regimen, the patient developed multifocal metastases involving the lungs, femur, and cerebrum. The cerebral lesions were managed with surgery and gamma knife radiosurgery, with mixed results.
CIC-rearranged Ewing-like sarcomas have recently been recognized as a distinct disease entity with a highly aggressive course. Treatment paradigms have yet to be defined to properly manage such an aggressive pathological process.
具有帽状转录阻遏物（CIC）重排的尤文样肉瘤是一类独特的未分化圆形细胞肉瘤，其特征是 CIC-双同源盒 4 基因融合。尽管在组织学上与尤文肉瘤非常相似，但通过免疫组织化学和遗传学检查以及对治疗的反应，它们已被证明是一种独特的病理实体。我们报告了一例 CIC 重排的尤文样肉瘤伴脑转移，经手术切除和伽玛刀放射外科治疗。
一名 56 岁女性最初表现为右第五脚趾溃疡性病变。组织学和免疫组织化学分析显示符合 CIC 重排的尤文样肉瘤特征，通过基因分析得到证实。尽管进行了积极的局部控制和多药物化疗方案，患者仍出现了累及肺部、股骨和大脑的多发性转移。大脑病变采用手术和伽玛刀放射外科治疗，结果喜忧参半。
CIC 重排的尤文样肉瘤最近被认为是一种具有高度侵袭性病程的独特疾病实体。为了正确管理这种侵袭性病理过程，仍有待确定治疗方案。
