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[当神经内分泌表现型是误导性的:一个具有欺骗性概况的肝脏瘤]

Nissrine Berry¹, Philipe Baltzinger², Aline Baltrès³

¹Département d'anatomie et de cytologie pathologiques, hôpitaux universitaires de Strasbourg, 67200, Strasbourg, France.

Annales de pathologie

|September 24, 2025

概括

在一个先前患有甲状腺癌的患者身上发现了一种罕见的肝癌与NIPBL::NACC1融合. 这种具有挑战性的诊断需要先进的分子分析来确认.

科学领域:

在瘤学瘤学.
病理学病理学病理学
基因组学就是基因组学.

背景情况:

一名45岁的女性有乳头甲状腺癌史,出现了一个单独的5.5厘米的肝脏瘤.
最初的活检表明,基于形态和标记体表达的基础上,这是一个高度差异化的3级神经内分泌瘤.

研究的目的:

为了调查一种具有挑战性的肝脏瘤的确切性质,最初怀疑是神经内分泌瘤.
描述这种罕见的肝脏瘤的组织病理和分子特征.

主要方法:

组织病理学检查,包括针对神经内分泌标记物和α-inhibin的免疫组织化学检查.
阳位子发射断层扫描/计算机断层扫描 (FDG-PET/CT) 和体静止素受体成像 (DOTATOC-PET).
RNA测序以识别聚变转录.

主要成果:

肝脏瘤表现出具有卵状细胞核,管状固体结构和焦点甲状腺状区域的单体细胞.
免疫组织化学显示了可变的神经内分泌标志物表达,但强烈的,扩散的α-inhibin阳性.
RNA测序发现了一个NIPBL::NACC1融合转录,导致了修订的诊断.

结论:

NIPBL::NACC1融合定义了一种罕见的肝癌,可以在初始活检上模仿神经内分泌瘤.
强烈的α-inhibin阳性是一种一致的特征,有助于诊断.
分子分析对于准确诊断这种具有挑战性的肝脏恶性瘤至关重要.

关键词:

肝癌 (肝癌) 是一种肝癌.肝癌:肝癌是一种肝癌.NIPBL::NACC1 的意思神经内分泌瘤的神经内分泌瘤神经内分泌的瘤

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