CIC-rearranged sarcoma presenting with superior vena cava syndrome: case report.

IF 4.4 Q1 PATHOLOGY
PATHOLOGICA Pub Date : 2023-04-01 DOI:10.32074/1591-951X-784
Andrea Ascione, Giovanni Martino, Francesco Di Donato, Beatrice Casini, Renato Covello, Stefano Ascani
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引用次数: 0

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.

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以上腔静脉综合征为表现的cic重排肉瘤1例。
cic重排肉瘤是一种罕见的间充质肿瘤,属于未分化小圆细胞肉瘤家族。本报告详细介绍了一个45岁男性的病例,表现为纵隔压迫症状,放射学诊断为纵隔肿块,并迅速发展为全面的上腔静脉综合征。用药理学方法成功地处理了这一紧急情况。cic重排肉瘤的病理诊断最初由荧光原位杂交结果支持,后来通过下一代测序验证,结果显示CIC-DUX4基因融合。化疗方案开始了,病人立即受益。能够引起上腔静脉综合征的病理实体范围很广,认识到罕见的原因对于针对特定疾病量身定制治疗方法非常重要。据我们所知,这是第一例以上腔静脉综合征为表现的cic重排肉瘤。
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来源期刊
PATHOLOGICA
PATHOLOGICA PATHOLOGY-
CiteScore
5.90
自引率
5.70%
发文量
108
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