超越污点:BAP1-无活化的黑色素细胞瘤与保留的BAP1核表达由于误解突变在催化域
Silvija Milanovic1, Christina Sun2, Lindsay Gunnell3
1University of Florida, College of Medicine, Gainesville, Florida, USA.
Journal of cutaneous pathology
|March 11, 2026
概括
BAP1 失活的黑色细胞瘤 (BIMTs) 通常会失去 BAP1 的核表达. 然而,一些具有特定BAP1突变的BIMT保留了表达,需要分子测试才能准确诊断.
科学领域:
- 在瘤学瘤学.
- 皮肤病理学 皮肤病理学
- 分子病理学分子病理学
背景情况:
- 通过免疫组织化学 (IHC) 通过BAP1核表达的丧失来诊断BAP1无活化的黑色素细胞瘤 (BIMTs).
- 这种表达的丧失是BIMTs的关键诊断标记.
研究的目的:
- 调查展示保留BAP1核表达的BIMT的情况.
- 确定在BIMTs中保留BAP1表达的潜在分子机制.
主要方法:
- 分析了四个BIMT病例,其中保留了BAP1核表达.
- 针对BAP1和PRAME表达的免疫组织化学 (IHC).
- 为BAP1和BRAF突变进行下一代测序.
主要成果:
- 这四个病例都显示出双细胞形态学和低线粒活性.
- 在所有情况下,PRAME表达缺席或焦点弱.
- 三个病例具有BAP1 p.H169Y突变与BRAF V600E.
- 一个病例具有BAP1 p.G185R和BRAF V600_S602delinsDT突变.一个病例具有BAP1 p.G185R和BRAF V600_S602delinsDT突变.
- BAP1变体位于N端的UCH域中,保留了蛋白质折叠和核定位.
结论:
- 特定的BAP1误解突变 (例如,p.H169Y,p.G185R) 可以导致功能失活,同时保留核BAP1表达.
- 在形态暗示性BIMT中保留的BAP1核表达应该促使进一步的分子研究.
- 对于BAP1C端的IHC仍然很有价值,但在模两可的情况下,分子测试对于确定诊断至关重要.
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