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在非典型的甲状腺/状腺瘤中,甲状腺表达

Havva Gökçe Terzioğlu¹, Sarp Uzun², Juergen Hench²

¹Department of Pathology, Hacettepe University Faculty of Medicine, Ankara, Turkiye.

International journal of surgical pathology

|November 13, 2024

概括

胸腔表达可以帮助区分罕见的儿童大脑瘤. 虽然大多数非典型的形形/形形瘤 (AT/RT) 是抗素阴性,但其存在,以及甲基化概况,可以表明差异化形瘤.

科学领域:

儿科神经瘤学儿童神经瘤学
分子诊断学分子诊断学
瘤的分类瘤的分类

背景情况:

非典型的甲状腺/状腺瘤 (AT/RT) 是一种罕见的,侵袭性的儿童中枢神经系统瘤,通常与SWI/SNF复杂变化有关.
从诊断上来说,区分AT/RT与差异化的心脏瘤是很有挑战性的,特别是在特定的位置和年龄组.
作为这些条件的诊断标记物,brachyury的实用性仍在调查中.

研究的目的:

在AT/RT样本的队列中研究brachyury的表达模式.
评估brachyury作为AT/RT和差异化心脏瘤之间的差异诊断标记物的潜力.
将包括DNA甲基化在内的分子发现与瘤特征和诊断联系起来.

主要方法:

在44个来自40名患者的AT/RT样本中,使用免疫组织化学 (2个克隆) 分析了brachyury表达的分析.
对所有病例的形态,地形和临床数据的审查.
针对选定的病例进行DNA甲基化分析,以将表观遗传相似性与参考心脏瘤样本进行比较.

主要成果:

绝大多数AT/RT样本 (42/44) 对brachyury.ury是负的.
在幼儿中,位于关节的两个瘤显示出正面的brachyury表达 (一个是扩散的,一个是不整的).
一个brachyury阳性瘤通过DNA甲基化分析表现出与chordoma的表观遗传相似性;另一个显示了退化的DNA模式.
根据综合诊断结果,两个最初的AT/RT诊断被修改为差异化不良的心脏瘤.

结论:

在AT/RT中,胸腔表达在很大程度上不存在,但可以存在于类似于差异化冠状瘤的瘤子集中.
结合对brachyury表达,形态,位置和DNA甲基化概况的评估,有助于从AT/RT区分差异化冠状瘤.
在适当的临床背景下,Brachyury可以作为一种有价值的诊断辅助,用于区分这些具有挑战性的儿科中枢神经系统瘤.

关键词:

在INI1中,INI1是INI1的代名词.在SMARCB1中,不典型的甲状腺/状腺瘤.布拉基尤里 (Brachyury) 是一个名为布拉基尤里 (Brachyury) 的名字.冠状动脉瘤 (chordoma) 是一种差异化不良的冠状腺瘤

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