PDF(Pubmed)
Abstract：
CIC-rearranged sarcomas are rare mesenchymal neoplasms belonging to the family of undifferentiated small round cell sarcomas. This report details the case of a 45-year-old man presenting with symptoms of mediastinal compression, radiological diagnosis of a mediastinal mass and rapid evolution to full-blown superior vena cava syndrome. The emergency was successfully managed with a pharmacological approach. Formulation of a pathological diagnosis of CIC-rearranged sarcoma was initially supported by fluorescence in situ hybridisation findings and later validated by next-generation sequencing, which showed CIC-DUX4 gene fusion. A chemotherapy regimen was started with immediate benefits for the patient. The spectrum of pathological entities able to cause superior vena cava syndrome is wide, and recognition of rare causes is important to tailor the therapeutic approach to the specific disease. This is, to the best of our knowledge, the first report of CIC-rearranged sarcoma presenting with superior vena cava syndrome.
摘要：
CIC重排肉瘤是罕见的间充质肿瘤，属于未分化的小圆细胞肉瘤家族。这份报告详细介绍了一名45岁的男性出现纵隔压迫症状的情况，纵隔肿块的放射学诊断和快速演变为完整的上腔静脉综合征。通过药理学方法成功地管理了紧急情况。CIC重排肉瘤的病理诊断最初得到了荧光原位杂交结果的支持，后来通过下一代测序进行了验证。显示CIC-DUX4基因融合。开始化疗方案，对患者立即受益。能够引起上腔静脉综合征的病理实体的范围很广，和识别罕见的原因是重要的调整治疗方法为特定的疾病。这是,据我们所知,出现上腔静脉综合征的CIC重排肉瘤的首例报告。
