[BAP1突变透明细胞细胞癌的临床病理特征]
1Department of Pathology, the First Affiliated Hospital, Zhejiang University School of Medicine,Hangzhou 310003, China.
Zhonghua bing li xue za zhi = Chinese journal of pathology
|August 5, 2024
概括
这项研究确定了BAP1突变的清晰细胞细胞癌 (CCRCC) 的关键特征,包括特定的组织学模式和P504s阳性. 病理学家应考虑具有这些特征的CCRCC中的BAP1突变.
科学领域:
- 尿路病理学 尿路病理学
- 分子病理学分子病理学
- 在瘤学瘤学.
背景情况:
- 清细胞细胞癌 (CCRCC) 是癌最常见的亚型.
- 了解CCRCC的分子驱动因素对于诊断和治疗至关重要.
- BAP1基因的突变与CCRCC病例的一个子集有关.
研究的目的:
- 确定BAP1突变的CCRCC的临床病理学,免疫类型和分子特征.
- 帮助对这种特定的CCRCC亚型进行差异诊断.
- 为了将组织学发现与BAP1突变状态相关联.
主要方法:
- 追溯分析了18个BAP1突变的CCRCC病例.
- 对临床数据,组织形态学和免疫组织化学概况的审查.
- 分子特征的分析,包括基因突变 (BAP1,VHL,PBRM1,SETD2).
主要成果:
- 发生BAP1突变的CCRCC病例表现出乳头状,气泡状和大巢状的模式,带有eosinophilic细胞质和原球体.
- 高级核 (WHO/ISUP 3或4级) 是常见的.
- 所有病例均为P504s阳性;常见的共变包括VHL.
- 16名随访患者中有7名发生转移,死亡率显著.
结论:
- BAP1突变的CCRCC呈现出明显的形态和免疫组织化学特征,包括P504s阳性.
- 病理学家应考虑在表现出这些特征性发现的CCRCC病例中进行BAP1突变测试.
- 准确识别BAP1突变的CCRCC对于理解其行为和预后至关重要.
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