ERBB2/ERBB3突变S100/SOX10阳性子宫肉瘤:一些新的东西
Wangpan J Shi1, Oluwole Fadare2
1Department of Pathology, University of California San Diego Health, 9300 Campus Point Drive, Suite 1-200, La Jolla, MC 7723, San Diego, CA, 92037, USA.
Virchows Archiv : an international journal of pathology
|December 12, 2024
概括
这项研究确定了一种罕见的子宫肉瘤,具有特定的基因突变,包括ERBB2/ERBB3,以及独特的S100+/SOX10+配置文件. 这一发现有助于对这种新兴瘤实体进行分类,以便更好地照顾患者.
科学领域:
- 在瘤学瘤学.
- 病理学 病理学 病理学
- 分子生物学分子生物学
背景情况:
- 子宫介质瘤通常涉及受体氨酸激酶融合.
- 最近发现了一种独特的基因融合阴性子宫肉瘤亚型.
- 这种亚型的特征是ERBB2/ERBB3突变,CDKN2A删除,ATRX突变和S100+/SOX10+免疫组织化学.
研究的目的:
- 描述这个新出现的子宫肉瘤实体的另一个案例.
- 审查关于在子宫介质瘤中表皮生长因子受体家族异常的文献.
- 为了支持将这种瘤根据其分子和病理形状将其分类为一个独特的实体.
主要方法:
- 一个57岁的妇女有8厘米的子宫瘤的病例报告.
- 免疫组织化学分析包括SOX10,S100,CD68,CD56,MITF,PRAME,HMB-45,ER,PR,HER2,Melan-A/MART1,STAT6,泛TRK,ALK,CD34,desmin,CD10,肌原蛋白,胰岛素,以及H3K27me3.3等.
- 对包括ERBB2,ATRX,CDKN2A,NF1和SMARCA4.4在内的遗传变化的分子分析.
主要成果:
- 瘤表现出状细胞形态,并且对SOX10,S100,CD68,CD56,MITF和PRAME具有免疫反应.
- 关键的分子发现包括ERBB2 p.Val777Leu,ATRX p.F2113Sfs*,CDKN2A深度删除,NF1 p.W2317*,以及SMARCA4 p691Sfs*.
- 保留的H3K27me3表达和其他各种标记物的负结果证实了独特的形状.
结论:
- 描述的案例代表了新出现的子宫肉瘤实体的另一个实例,具有独特的分子和病理特征.
- 在这种瘤类型中,表皮生长因子受体家族的异常,特别是ERBB2/ERBB3突变,是显著的.
- 针对性治疗的独特形象和潜力支持将其归类为一个独立的实体.
关键词:
在ERBB2,ERBB3,S100,SOX10,HER2,S100/SOX10,ERBB2/ERBB3中,我们可以看到这些数据.受体氨酸激酶的受体.在S100/SOX10中,S100/SOX10的位置是什么?子宫肉瘤是什么子宫肉瘤更多相关视频
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