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摘要: 尤文肉瘤（ewing sarcoma，ES）和尤文样肉瘤均是侵袭性较强的小圆细胞肉瘤，两者的形态学和免疫表型相似，但发病部位、临床表现、预后及治疗方案却存在明显差异。尤文样肉瘤缺乏ES的典型分子特征，越来越多的证据表明，尤文样肉瘤是具有独特疾病特征的独立肉瘤，而不仅是ES的亚型。分子遗传学检测极大地促进了对小圆细胞肿瘤分类的重新评估，本文将就ES及尤文样肉瘤的主要病理分型—CIC重排肉瘤、BCOR重排肉瘤、EWSR1与非ETS家族基因重排的肉瘤和未分化小圆细胞肉瘤的最新研究进展进行综述。Abstract: Ewing's sarcoma and Ewing-like sarcoma are highly invasive sarcomas predominantly characterized by the presence of small round cells. Although certain morphological and immunophenotypical characteristics are similar between the two sarcomas, there are obvious differences in the disease sites, clinical manifestations, prognoses, and treatment responses. Additionally, Ewing-like sarcomas lack the typical molecular characteristics of Ewing's sarcoma. A growing body of evidence shows that Ewing-like sarcomas constitute a different disease type with unique characteristics, and are not just a subtype of Ewing's sarcoma. The discovery of novel molecular genetic tests has significantly aided the reevaluation of the classification of small round cell tumors. This article aims to review the recent progress in the research on Ewing's sarcoma and the major subclasses of Ewing-like sarcoma characterized thus far: CIC rearrangement sarcoma, BCOR rearrangement sarcoma, non-ETS family gene rearrangement sarcoma, and undifferentiated small round cell sarcoma.
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Key words:
- Ewing's sarcoma /
- Ewing-like sarcoma /
- differential diagnosis
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图 1 经典ES和尤文样肿瘤融合概况[10]
经典ES的基因融合以蓝色线条描绘，涉及RNA结合蛋白Tet家族（EWSR1和FUS）和ETS转录因子家族（最常见的是FLI1）之间的融合。尤文样肉瘤的融合以红色粗体表示。5'融合伙伴以紫色突出显示，3'融合伙伴以绿色突出显示
表 1 经典ES融合
表 2 尤文样肉瘤融合
表 3 ES与尤文样肉瘤的形态学、免疫表型及预后等异同汇总
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