[具有BRAF V600E突变的成年威尔姆斯瘤的临床病理特征]
1Department of Pathology, Fudan University Shanghai Cancer Center; Department of Oncology, Shanghai Medical College, Fudan University; Institute of Pathology, Fudan University, Shanghai 200032, China.
Zhonghua bing li xue za zhi = Chinese journal of pathology
|December 7, 2023
概括
BRAF V600E突变在成年威尔姆斯瘤 (WT) 中常见,具有甲腺瘤 (MA) 样特征,这表明它是一种独特的亚型. 这些瘤可能代表一个中间实体,具有有利的预后和潜在的治疗点.
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:
- 成人威尔姆斯瘤 (WT) 是罕见的,其临床病理特征需要进一步调查.
- 区分WT与甲腺瘤 (MA) 类似的特征对于准确的诊断和预后至关重要.
研究的目的:
- 在成年WT中识别BRAF V600E突变,具有重叠的MA组织学特征.
- 为了研究成年WT的临床病理学特征.
主要方法:
- 在2012-2021年间诊断的成人WT病例的回顾性审查.
- 针对BRAF V600E.的HE染色幻灯片和免疫组织化学 (IHC) 染色的组织病理学审查.
- 用于BRAF突变分析的基因测序.
主要成果:
- 在6个成年WTs中,有5个具有MA类区域的BRAF V600E突变被发现 (I队列).
- 所有没有MA类区域的成年WTs (II队列) 都对BRAF突变呈阴性.
- 第一个队列的病例显示出可变的Ki-67指数,所有病例在随访期间都存活下来.
结论:
- BRAF V600E突变在具有MA类特征的成年WT中很常见,使其与经典WT区分开来.
- 成年WTs具有MA类组织学可能代表具有良好的预后的中间实体.
- 在这种WT亚型中,BRAF V600E突变可能表明潜在的治疗点.
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