一例罕见的圆细胞肉瘤

IF 0.2 Q4 ONCOLOGY
Emma Pedersen , Christine MG Schammel , David P Schammel , A Michael Devane , Scott Porter , Steven D Trocha
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引用次数: 0

摘要

未分化圆细胞肉瘤(Undifferentiated round cell sarcoma, URCS)是一种极其罕见的癌症,由一组异质性的骨和软组织肿瘤组成,主要发生在年轻成人中(但分布在所有年龄段;年龄在20 -81岁之间),表现出轻微的男性优势。URCS主要通过其遗传异常来识别,在文献中有三种复发性致癌融合重排相关,最近被添加到WHO分类中:EWSR1-non-ETS, BCOR-CCNB3和CIC-DUX4。我们报告/描述了一个罕见的病例,27岁的女性在6年的非特异性症状后被诊断为URCS,包括第三近端指骨的疼痛和肿胀。该病例是近年来报道的第三例,根据FoundationOne基因分型,它莫西芬是唯一的治疗方法。该患者还接受了放射治疗、手术切除和姑息性化疗。肺和纵隔转移,患者在第一次治疗后89个月死于疾病。虽然这些肿瘤的诊断越来越依赖于分子谱,但治疗方法基本保持不变,并且在治疗计划中没有很大程度上反映遗传结果的使用。我们完成了对文献的全面回顾,以检查URCS并协助开发诊断/治疗算法。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
A rare presentation of round cell sarcoma

Undifferentiated round cell sarcomas (URCS) are an extremely rare form of cancer, comprising a heterogeneous group of bone and soft tissue tumors occurring primarily in young adults (but distributed across all ages; range 2mo-81 years) and displaying a slight male predominance. URCS are primarily identified by their genetic abnormalities, with three recurrent oncogenic fusion rearrangements associated in the literature and recently added to the WHO classifications: EWSR1-non-ETS, BCOR-CCNB3, and CIC-DUX4. We present/describe a rare case of an URCS diagnosed in a 27-year-old female following six years of non-specific symptoms including pain and swelling of the third proximal phalanx. This case is only the third reported in a digit and, based on FoundationOne genotyping, was uniquely treated with tamoxifen. This patient also received radiation therapy, surgical resection, and palliative chemotherapy. Metastases were noted in the lungs and mediastinum, and the patient died of disease 89 months after the first treatment. While diagnosis of these tumors is becoming increasingly dependent on molecular profiles, treatment remains mostly unchanged and does not largely reflect the use of genetic results in treatment plans. A comprehensive review of the literature was completed to examine URCS and assist in the development of a diagnostic/treatment algorithm.

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CiteScore
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