错配修复蛋白缺陷及其与子宫内膜癌临床病理因素的关系:一项回顾性研究

Mismatch Repair Protein Deficiency and Its Relationship with Clinicopathological Factors in Endometrial Cancer: A Retrospective Study.

作者信息

Aytekin Okan, Cesur Nesibe, Gozel Sercan, Karsli Sezin Eda, Tokalioglu Abdurrahman Alp, Kilic Fatih, Cuylan Zeliha Firat, Selcuk Ilker, Comert Gunsu Kimyon, Erdogan Fazli, Turan Taner

机构信息

Department of Gynecologic Oncology, Ankara Bilkent City Hospital, Ankara, Turkey 06800.

Department of Pathology, Ankara Bilkent City Hospital, Ankara, Turkey 06800.

出版信息

J Cancer. 2025 Jun 12;16(9):2778-2786. doi: 10.7150/jca.112935. eCollection 2025.

Abstract

The present study aimed to determine the frequency of mismatch repair (MMR) protein expression loss, as identified using immunohistochemistry (IHC), in tumor cells of endometrial cancer patients and the potential associations between this loss of expression and various clinicopathological characteristics. The preparations were considered positive if tumor cells showed immunoreactivity that was equal to or stronger than that of positive controls and negative if tumor cells completely lost immunoreactivity. MMR proficiency was defined as positive IHC staining of all four proteins [MutL homolog 1 (MLH1), MutS homolog 2, MutS homolog 6 and PMS1 homolog 2 (PMS2)]. If at least one of them showed negative IHC staining, this was interpreted as mismatch repair protein deficiency (dMMR). A total of 154 patients who met the criteria were included in this study. dMMR was observed in 54 (35.1%) patients in the study group. The MLH1 and PMS2 proteins were the most frequently lost, observed in 44 (28.8%) and 43 (27.9%) patients, respectively. Patients with dMMR were significantly older. However, there were no observed associations between dMMR and other clinicopathological factors. In conclusion, a notable association between the expression of MMR proteins and the age of the patient was observed in this cohort. No significant associations were detected between other clinical, surgical or pathological factors and MMR protein expression.

摘要

本研究旨在确定子宫内膜癌患者肿瘤细胞中错配修复(MMR)蛋白表达缺失的频率(通过免疫组织化学法检测),以及这种表达缺失与各种临床病理特征之间的潜在关联。如果肿瘤细胞显示出与阳性对照相当或更强的免疫反应性,则该标本被视为阳性;如果肿瘤细胞完全丧失免疫反应性,则视为阴性。MMR功能正常定义为所有四种蛋白[MutL同源蛋白1(MLH1)、MutS同源蛋白2、MutS同源蛋白6和PMS1同源蛋白2(PMS2)]的免疫组化染色均为阳性。如果其中至少一种蛋白的免疫组化染色呈阴性,则被解释为错配修复蛋白缺陷(dMMR)。本研究共纳入了154例符合标准的患者。研究组中54例(35.1%)患者存在dMMR。MLH1和PMS2蛋白缺失最为常见,分别在44例(28.8%)和43例(27.9%)患者中观察到。dMMR患者年龄显著更大。然而,未观察到dMMR与其他临床病理因素之间存在关联。总之,在该队列中观察到MMR蛋白表达与患者年龄之间存在显著关联。未检测到其他临床、手术或病理因素与MMR蛋白表达之间存在显著关联。

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