在罕见的位置出现的缺乏状元件的粘膜皮质瘤:用于诊断MAML2遗传测试的实用性
Mckinzie Johnson1, Sanjana Mehrotra2
1Department of Pathology, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA mckinzie.johnson@cuanschutz.edu.
BMJ case reports
|January 22, 2025
概括
粘膜皮质癌 (MEC) 在舌头上很罕见. 这一案例凸显了MAML2基因测试对于诊断缺乏状成分的舌头MEC的重要性.
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:
- 唾液腺恶性瘤是罕见的头癌 (<5%).
- 粘膜腺癌 (MEC) 是最常见的唾液瘤,通常在腺.
- 舌头上的MEC非常罕见,并带来诊断挑战,特别是当缺乏状成分时.
研究的目的:
- 报告一种独特的舌头MEC病例,其细胞主要是透明的,没有状成分.
- 强调MAML2重组在具有挑战性的MEC病例中的诊断实用性.
- 突出基因检测在罕见瘤呈现中的重要性.
主要方法:
- 舌头瘤的组织病理学检查.
- 审查2022年世界卫生组织唾液腺瘤分类.
- 进行MAML2基因检测.
主要成果:
- 一个MEC诊断在60多岁的男性患者的舌头上.
- 瘤呈现出主要是透明细胞,缺乏状分化.
- 确定了MAML2重组,支持了诊断.
结论:
- 在异常形态的舌头上,MEC很少发生.
- MAML2重组是MEC的关键诊断标志物,特别是在缺乏典型特征的病例中.
- 罕见的唾液腺瘤的准确诊断依赖于整合临床,组织学和遗传发现.
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