同时存在的SS18::SSX融合和BCOR过度表达:在诊断陷中揭示一次性脏突肉瘤
Prajna Gopalakrishna1, Rimlee Dutta1, Yashika Maheswari1
1Department of Pathology, All India Institute of Medical Sciences (AIIMS), New Delhi, India.
International journal of surgical pathology
|February 24, 2026
概括
初级脏突肉瘤 (PRSS) 的诊断是困难的,因为其与其他脏瘤的重叠特征. 对SS18::SSX基因融合的分子测试对于准确的诊断和治疗至关重要.
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:
- 初级脏突肉瘤 (PRSS) 由于非特异性症状和组织学重叠与脏细胞癌和其他肉瘤存在诊断挑战.
- 准确诊断PRSS需要分子确认SS18::SSX基因融合.
研究的目的:
- 报告一个具有异常BCOR免疫反活性的PRSS病例,这是一个潜在的诊断陷.
- 强调分子测试对于确定PRSS诊断的重要性.
主要方法:
- 对脏瘤的组织病理学检查.
- 免疫组织化学 (IHC) 针对各种标记物,包括泛基拉丁,EMA,CD99,BCL2,环素D1,SS18和BCOR.
- 光在位杂交 (FISH) 用于SS18基因重组和BCOR基因改变.
主要成果:
- 瘤表现出单相脊柱细胞新生瘤的特征,并有缩.
- IHC显示了几个标记物的阳性,包括SS18和矛盾的是,BCOR.
- FISH证实了SS18基因重组,但没有BCOR基因变异,确立了PRSS的诊断.
结论:
- 在PRSS中可能会出现异常的BCOR免疫活性,模仿BCOR改变的肉瘤,导致诊断混乱.
- 同时表达BCOR和cyclin D1可能导致误诊为脏清细胞肉瘤 (CCSK).
- 确切诊断PRSS需要SS18::SSX分子测试,因为重叠的IHC配置文件和显著的治疗/预后影响.
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