带有BCOR的轨道肉瘤 在儿科年龄组的基因变异
Syed Saad Salman1, Aanchal Kakkar1, Seema Kashyap2
1Department of Pathology, All India Institute of Medical Sciences, New Delhi, India.
Fetal and pediatric pathology
|September 8, 2024
概括
带有BCOR遗传变化的未分化圆细胞肉瘤 (URCS) 是罕见的儿科轨道瘤. 早期识别和基因检测对于准确诊断和避免误诊至关重要.
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:
- 儿童轨道瘤由于重叠的组织学,特别是恶性小圆细胞瘤,存在诊断挑战.
- BCOR遗传变异定义了一种特定的未分化圆细胞肉瘤 (URCS) 亚型,具有独特的临床和病理特征.
- 这些BCOR改变的肉瘤以前没有在轨道上被识别,增加了误诊的风险.
研究的目的:
- 在儿科患者中报告与BCOR遗传变异相关的轨道肉瘤的发生和特征.
- 强调在儿科轨道URCS的差异诊断中考虑新的遗传定义实体的重要性.
主要方法:
- 一系列病例描述了两个患有轨道肉瘤的儿科患者.
- 瘤样本的组织病理学检查,包括细胞形态和树皮特征.
- 对BCOR,环素D1和SATB2.2进行免疫组织化学分析.
- 对BCOR重排或内部并联重复的评估.
主要成果:
- 两名8岁和16个月龄的儿科女性患者,呈现了proptosis.
- 瘤呈现出圆形到卵状细胞的片状,具有单态核和频繁的线粒分裂.
- 没有微妙的分支毛细血管和myxoid stroma被注意到.
- 免疫组织化学检测显示BCOR,环素D1和SATB2.2的扩散阳性.
结论:
- 带有BCOR遗传变化的轨道瘤在儿科患者中异常罕见.
- 病理学家必须保持对这些罕见实体的高度怀疑指数.
- 准确的诊断需要适当的辅助基因测试,以检测疑似儿科轨道URCS的BCOR改变.
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