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主要卵巢固体伪毛囊瘤与CTNNB1 c.94G > T (p.D32Y) 突变:一个病例报告

Mengfei Xu¹, Xiao Wang¹, Wanrun Lin²

¹Department of Pathology, The International Peace Maternal and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, 200030, China; Shanghai Key Laboratory of Embryo Original Diseases, Shanghai, 200030, China.

International journal of surgery case reports

|September 22, 2025

概括

这项研究呈现了一种罕见的卵巢固体伪皮质瘤 (SPN-O) 病例,具有CTNNB1突变,突出显示了Wnt/β-catenin通路与胰腺SPN的共同参与. 这些发现支持SPN-O作为与胰腺对应物独立的实体.

科学领域:

妇科瘤学妇科瘤学
病理学病理学病理学
分子生物学分子生物学

背景情况:

初级卵巢固体伪毛囊瘤 (SPN-O) 异常罕见,在文献中报告的病例有限.
一部分SPN-O病例表现出CTNNB1突变,反映了胰腺SPN中发现的变化.
这份报告详细介绍了第四个SPN-O病例,确认了CTNNB1突变.

研究的目的:

呈现一种罕见的卵巢固体伪皮质瘤 (SPN-O) 的病例.
研究SPN-O.中的分子特征,特别是CTNNB1突变.
探索SPN-O和胰腺SPN (SPN-P) 之间关于Wnt/β-catenin通路参与的相似之处.

主要方法:

一个45岁妇女的病例介绍,她的左卵巢质量为6厘米.
组织病理学检查包括形态学,线粒活动和Ki-67指数.
针对β-catenin和E-cadherin的免疫组织化学.
对CTNNB1突变的遗传分析.

主要成果:

显微镜检查显示,主要是囊性瘤,具有固体和伪囊状结构.
瘤细胞表现出统一的形态与最小的异型和低的Ki-67指数.
免疫组织化学证实了核/细胞质β-catenin的阳性和E-cadherin的阴性.
在基因分析中,在第3个异构体中发现了CTNNB1 c.94G>T (p.D32Y) 突变.
患者在手术后四年内仍然没有复发.

结论:

这一案例加强了SPN-O和SPN-P之间的形态,免疫组织化学和分子相似性.
鉴定到的CTNNB1突变进一步支持了Wnt/β-catenin通路调节失调在SPN瘤发生过程中的关键作用.
虽然SPN-O与SPN-P具有有利的结果,但由于潜在的转移风险,需要长期监测.

关键词:

在 CTNNB1 突变中.卵巢卵巢卵巢卵巢固体的伪毛囊性瘤.在Wnt/β-catenin路径中.这是一种B-Catenin.

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