EWSR1::POU2AF3(COLCA2) 肉瘤:一种具有头部和部倾向的侵略性多类型肉瘤
Olena Koshyk1, Carina A Dehner2, Mari F C M van den Hout3
1Department of Pathology, Charles University, Faculty of Medicine in Plzeň, Czech Republic; Medical Laboratory CSD, Ltd, Kyiv, Ukraine.
概括
EWSR1::POU2AF3 (COLCA2) 瘤是一种罕见的癌症,通常在头部和部发现. 这些侵袭性瘤表现出多样化的形态和高转移率,需要多式治疗.
科学领域:
- 在瘤学瘤学.
- 病理学 病理学 病理学
- 遗传学 遗传学 是一个
背景情况:
- EWSR1::POU2AF3 (COLCA2) 瘤是最近发现的一组瘤.
- 这些瘤倾向于头部和部区域.
研究的目的:
- 报告8例EWSR1::POU2AF3类肉瘤的经验.
- 描述它们的临床行为,形态谱和遗传基础.
主要方法:
- 对8名患有EWSR1::POU2AF3肉瘤的患者的病例系列审查.
- 对临床数据,组织病理学,免疫组织化学和RNA测序的分析.
- 用于EWSR1基因重排的光在位杂交 (FISH).
主要成果:
- 瘤发生在头部/部 (4例) 和其他部位.
- 随访时间中位数为32个月,5名患者发生转移,3名患者出现局部复发.
- 形态亚组包括平淡的螺旋状细胞瘤和明显恶性神经内分泌出现的圆细胞瘤与不同的分化.
- 所有病例中都确认了EWSR1::POU2AF3基因融合;在5个病例中,FISH对EWSR1进行了重新排列.
结论:
- EWSR1::POU2AF3 瘤具有头部/部偏好和攻击性行为.
- 形态谱包括平淡的状细胞和分离的分化瘤.
- 多式疗法通常是由于高转移潜力而被指示的.
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