复发的Wnt路径和ARID1A在鼻嗅觉癌的改变
Lisa M Rooper1, Abbas Agaimy2, Diana Bell3
1Department of Pathology, The Johns Hopkins University School of Medicine, Baltimore, Maryland; Department of Oncology, The Johns Hopkins University School of Medicine, Baltimore, Maryland.
概括
分子分析揭示了嗅觉癌的反复变化,将其与嗅觉神经母细胞瘤区分开来,并将其与鼻腔神经内分泌癌结合起来. 这些发现澄清了鼻神经皮质瘤的分类.
科学领域:
- 在瘤学瘤学.
- 分子病理学分子病理学
- 头部和部癌症研究研究
背景情况:
- 带有神经上皮分化的鼻瘤,包括嗅觉神经母细胞瘤 (ONB),存在诊断挑战,缺乏正式分类.
- 嗅觉癌,最近为这些瘤提出的术语,需要分子特征来理解病变发生和分类.
- 以前的研究已经突出了独特的组织学和免疫组织化学特征,但缺乏分子洞察力.
研究的目的:
- 为了对鼻鼻嗅癌进行有针对性的分子分析.
- 阐明嗅觉癌的分子特征,病原和分类.
- 为了比较分子发现与嗅觉神经母细胞瘤和鼻腔神经内分泌癌.
主要方法:
- 对23例鼻嗅觉癌的病例进行了有针对性的分子分析.
- 组织学和免疫组织化学分析证实了具有上皮特征的高等级神经切皮细胞.
- 分析的重点是识别反复发生的瘤性分子变化.
主要成果:
- 在23种瘤中,在20种瘤中发现了反复发生的分子变化.
- 关键的改变包括Wnt路径的改变 (CTNNB1,PPP2R1A),ARID1A的失活,RUNX1突变和IDH2热点突变.
- 观察到与ONB变化的最小重叠以及与鼻腔神经内分泌癌的显著重叠.
结论:
- 嗅觉癌症具有反复的分子变异,但不是由单个突变来定义的.
- 分子数据支持嗅觉癌与ONB的分离,并强调与鼻腔神经内分泌癌的重叠.
- 鼻腔神经内分泌和神经皮质瘤代表了一种包括ONB,嗅觉癌,神经内分泌癌和IDH2-突变鼻腔癌的谱.
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