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伴有高微卫星不稳定性和STK11突变的高级别条索状及玻璃样变子宫内膜样癌:1例报告并文献复习

High-grade corded and hyalinized endometrioid carcinoma with high microsatellite instability and STK11 mutation: A case report and literature review.

作者信息

Zhang Xiru, Cui Fengyun, Yuan Yingxue, Cheng Hongxia, Cao Zhixin

机构信息

Department of Pathology, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan, Shandong 250021, P.R. China.

出版信息

Oncol Lett. 2025 Jun 10;30(2):389. doi: 10.3892/ol.2025.15136. eCollection 2025 Aug.

Abstract

Corded and hyalinized endometrioid carcinoma (CHEC) is a rare morphological variant of EC, characterized by biphasic histological characteristics. CHEC are predominantly low-grade, while high-grade CHEC is exceedingly rare in clinical practice. The present study reports a case of CHEC with a high-grade component in a 38-year-old female patient. Morphologically, well-differentiated EC was observed alongside corded components in the hyalinized degenerated mesenchymal tissue in the low-grade region. In the high-grade region, poorly differentiated epithelial cells, faintly visible hyalinized stroma and high nuclear grade spindle-shaped cells were observed. Immunohistochemistry demonstrated the diffuse nuclear expression of β-catenin in tumor cells. Next-generation sequencing revealed β-catenin and PIK3CA (Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha) gene mutations in both the low- and high-grade regions. Notably, the high-frequency type of microsatellite instability and mutations in serine/threonine kinase 11 were detected exclusively in the high-grade CHEC. The present study reports a case of high-grade CHEC, and simultaneously performed a review of the literature, identifying seven similar cases. Due to the rarity of such cases and the limited knowledge regarding their pathological features, there is a high risk of misdiagnosis. Further accumulation of cases is necessary to characterize CHEC.

摘要

条索状和玻璃样变的子宫内膜样癌(CHEC)是子宫内膜癌(EC)一种罕见的形态学变异类型,具有双相组织学特征。CHEC主要为低级别,而高级别CHEC在临床实践中极为罕见。本研究报告了一例38岁女性患者的伴有高级别成分的CHEC。形态学上,在低级别区域的玻璃样变退化间充质组织中观察到与条索状成分并存的高分化EC。在高级别区域,观察到低分化上皮细胞、隐约可见的玻璃样变间质和高核级梭形细胞。免疫组化显示肿瘤细胞中β-连环蛋白弥漫性核表达。二代测序显示低级别和高级别区域均存在β-连环蛋白和PIK3CA(磷脂酰肌醇-4,5-二磷酸3-激酶催化亚基α)基因突变。值得注意的是,仅在高级别CHEC中检测到高频微卫星不稳定性类型和丝氨酸/苏氨酸激酶11突变。本研究报告了一例高级别CHEC病例,同时对文献进行了回顾,确定了7例类似病例。由于此类病例罕见且对其病理特征了解有限,存在较高的误诊风险。需要进一步积累病例以明确CHEC的特征。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/da33/12175494/8954da664e5a/ol-30-02-15136-g00.jpg

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