威尔姆斯瘤:成年患者的意外诊断
Garrett J Chan1, Bradley A Stohr1, Adeboye O Osunkoya2
1From the Department of Pathology, University of California, San Francisco (G.J. Chan, Stohr, Croom, Cho, Balassanian, E. Chan).
Archives of pathology & laboratory medicine
|September 27, 2023
概括
成人威尔姆斯瘤 (WT) 很罕见,难以诊断. 这项研究详细介绍了四个成年WT病例的诊断特征,分子概况和结果,突出了其意想不到的呈现和分子测试的作用.
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:
- 成人威尔姆斯瘤 (WT) 异常罕见,由于文献有限,具有诊断和治疗方面的挑战.
- 了解成人WT需要对其临床,病理和分子特征进行详细分析.
研究的目的:
- 为了划出成人WT的诊断特征.
- 为了进行成年WT病例的分子分析.
- 在多机构队列中报告患者的结果.
主要方法:
- 追溯分析了四个成年WT病例.
- 诊断评估包括细针吸收和瘤切除.
- 使用了免疫组织化学 (PAX8,WT1) 和下一代测序.
主要成果:
- 病例呈现出转移性或局部性疾病,具有明显的组织学发现 (原始上皮细胞,三相组织学,上皮细胞占主导地位).
- 免疫组织化学显示了可变的PAX8和WT1阳性.
- 分子分析确定了已知的儿科WT突变 (ASXL1,WT1,TERT促进体) 和4例中的3例中的1q增长.
结论:
- 成人WT是一种罕见且难以诊断的疾病,通常呈现为原始脏或转移性瘤.
- 分子测试有助于差异诊断,但由于WT的多种驱动突变,可能缺乏明确的灵敏度/特异性.
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