缺少SMARCB1的髓状脏细胞癌没有SMARCB1/INI1的基因删除
Yanning Zhang1, Jianmin Zhao1, Xiaojing Teng1
1Department of Pathology, Beijing Friendship Hospital, Capital Medical University, Beijing, China.
International journal of surgical pathology
|February 21, 2025
概括
带有骨髓表型 (RCCU-MP) 未分类的细胞癌可以在没有状细胞特征的情况下发生. 这种罕见的瘤缺乏SMARCB1表达,表现出侵略性行为和不良预后.
科学领域:
- 在瘤学瘤学.
- 病理学 病理学 病理学
- 遗传学 是一个遗传学.
背景情况:
- 世界卫生组织 (WHO) 2022年版将细胞癌未分类与骨髓表型 (RCCU-MP) 分类为SMARCB1缺陷骨髓癌的亚型.
- RCCU-MP呈现的特征与髓性瘤相似,但发生在没有状细胞特征或疾病的患者中.
- 在现有文献中记录了大约12例RCCU-MP病例.
研究的目的:
- 在39岁的患者中报告RCCU-MP的新病例.
- 为了研究这种罕见瘤的形态和免疫类型特征.
- 为了探索超越SMARCB1基因变异的潜在病原遗传机制.
主要方法:
- 瘤的形态和免疫表型分析.
- 对于SMARCB1,素19,PAX8,PAX2,GATA3,OCT3/4和ALK的免疫组织化学.
- 在SMARCB1基因位点 (22q11.23) 的光 in situ杂交 (FISH).
主要成果:
- 瘤表现出与髓瘤一致的形态.
- 通过免疫组织化学,SMARCB1表达缺失;然而,FISH没有显示SMARCB1基因的删除或转位.
- 瘤细胞对质素19,PAX8和PAX2呈阳性,对GATA3,OCT3 / 4和ALK呈阴性.
- 确定了周围淋巴结转移,患者在手术后六个月经历了局部复发.
结论:
- 这种情况扩大了在没有血红蛋白病变的患者中观察RCCU-MP的范围.
- 由于没有SMARCB1基因变异,这表明RCCU-MP.中SMARCB1/INI1蛋白质损失的替代机制.
- 转移和复发的存在表明瘤的攻击性行为和不良预后,需要进一步研究其病变.
关键词:
在INI1中,INI1是INI1的代码.缺少SMARCB1的髓状细胞瘤是细胞癌.髓性瘤 (Renal Medullary Carcinoma) 是一种髓性瘤.未分类的细胞癌与髓状表型的细胞癌.更多相关视频
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