关键词: CIC CIC-rearranged sarcoma DUX4 ETV4 Ewing-like sarcoma Fusion gene

Mesh : Humans Biomarkers, Tumor / genetics metabolism Sarcoma, Small Cell / diagnosis genetics Sarcoma, Ewing / diagnosis genetics Sarcoma / diagnosis genetics Soft Tissue Neoplasms / diagnosis genetics

来  源:   DOI:10.1016/j.path.2023.06.003

Abstract:
CIC-rearranged sarcoma is a rare type of small round cell sarcoma. The tumors often affect the deep soft tissues of patients in a wide age range. They are highly aggressive, respond poorly to chemotherapy, and have a worse outcome than Ewing sarcoma. CIC-rearranged sarcoma has characteristic and recognizable histology, including lobulated growth, focal myxoid changes, round to epithelioid cells, and minimal variation of nuclear size and shape. Nuclear ETV4 and WT1 expression are useful immunohistochemical findings. CIC fusion can be demonstrated using various methods; however, even next-generation sequencing suffers from imperfect sensitivity, especially for CIC::DUX4.
摘要:
CIC重排肉瘤是一种罕见的小圆形细胞肉瘤。肿瘤通常在很宽的年龄范围内影响患者的深部软组织。他们非常好斗,化疗反应不佳,结果比尤因肉瘤更糟糕.CIC重排肉瘤具有特征性和可识别的组织学,包括分叶生长,局灶性黏液样改变,圆形到上皮样细胞,核大小和形状的变化最小。核ETV4和WT1表达是有用的免疫组织化学发现。CIC融合可以使用各种方法进行证明;然而,甚至下一代测序也有不完美的敏感性,尤其是CIC::DUX4。
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