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带有旋转和GREB1::CTNNB1融合的子宫内膜层瘤 - - 一个罕见实体的病例报告

Michaela Kendall Bártů¹, Miroslava Flídrová², Kristýna Němejcová²

¹Department of Pathology, First Faculty of Medicine, Charles University and General University Hospital in Prague, 12800, Prague, Czech Republic. michaela.kendallbartu@vfn.cz.

Virchows Archiv : an international journal of pathology

|July 12, 2024

概括

这项研究详细介绍了一种罕见的子宫内膜 stromal 瘤,具有独特的旋转模式和特定的基因融合 (GREB1::CTNNB1). 基因分析对于诊断这些不寻常的子宫瘤至关重要.

科学领域:

妇科病理学妇科病理学
分子病理学分子病理学
在瘤学瘤学.

背景情况:

子宫内膜层瘤 (ESTs) 呈现不同的形态,使准确的诊断变得复杂.
子宫介质瘤需要精确的分类,以进行适当的患者管理.
遗传改变在各种瘤的发病过程中起着重要作用.

研究的目的:

报告一个罕见的子宫内膜层结节的病例,具有独特的旋转形态.
在子宫介质瘤中识别和确认一种新型基因融合 (GREB1::CTNNB1).
为了研究这种特定瘤类型的临床行为和免疫组织化学特征.

主要方法:

对子宫瘤进行组织病理学检查.
转录组RNA测序以识别基因融合.
对于β-catenin表达的免疫组织化学.

主要成果:

诊断出一个明显划分的子宫内膜层结节与广泛的旋转.
确定了一种GREB1::CTNNB1基因融合,证实了通路的激活.
瘤表现为良性行为,在诊断后15年没有复发.
观察到扩散的核β-catenin表达.

结论:

这一病例代表了第四次报告的CTNNB1重排的子宫内膜层瘤,具有旋转的形态.
这些发现强调了基因分析对于诊断罕见子宫瘤的重要性.
了解CTNNB1重组瘤的生物学可能有助于针对恶性瘤的向治疗.

关键词:

ESN ESN ESN ESN ESN ESN ESN ESN ESN ESN ESN ESN ESN ESN ESN 宫内膜的 stromal 瘤宫内膜的 stromal 瘤格雷布1 (GREB1) 是一个很大的问题.GREB1::CTNNB1 核聚变可能发生子宫介质瘤子宫介质瘤

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