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探索子宫内膜癌中的微卫星不稳定性:临床病理学相关性与临床意义——一项来自北印度的研究

英文原题:Exploring Microsatellite Instability in Endometrial Carcinomas: Clinicopathological Correlations and Clinical Implications-A Study from North India.

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Exploring Microsatellite Instability in Endometrial Carcinomas: Clinicopathological Correlations and Clinical Implications-A Study from North India.

PubMed 2025/04/17(内容时间) Indian J Surg Oncol Q4 · IF 0.7(JCR 2025)

研究概要

该研究在 3 年期间共入组 109 例病例。

中文摘要

子宫内膜癌是全球女性中第二常见的妇科恶性肿瘤。近期对其分子分型的认识已成为制定个体化治疗的重要方面。分子分型强调了微卫星不稳定性(MSI)的意义:MSI亚组患者在分子异常、遗传风险因素、预后及治疗反应方面均与其他亚组不同。因此,本研究调查子宫内膜癌中的MSI发生率及其与临床病理参数的关联。研究历时3年纳入109例患者,并从申请表收集人口学资料。通过常规苏木精—伊红(H&E)切片检查病例,并依据国际免疫肿瘤生物标志物工作组提出的标准人工评估TIL(肿瘤浸润淋巴细胞)。选取含有足量存活肿瘤细胞的代表性石蜡块,进行错配修复(MMR)蛋白(MLH1、MSH2、MSH2和MSH6)的免疫组化(IHC)染色。109例中,100例为子宫内膜样癌、5例为浆液性癌、2例为透明细胞癌、2例为癌肉瘤。77例(71%)为错配修复功能完整(pMMR),32例(29.00%)为错配修复缺陷(dMMR)。MMR缺陷仅见于子宫内膜样癌。MMR状态与年龄、肿瘤大小和部位、肌层浸润、肿瘤分级、淋巴血管侵犯(LVI)及分期均无关联;淋巴结受累呈较高趋势,并且与TIL较高存在显著关联。过去MSI检测主要用于识别林奇综合征患者并评估MSI癌的严重程度和预后,如今也用于识别可能从靶向治疗获益的患者。因此,建议所有子宫内膜癌病例均开展MMR检测;IHC检测MMR蛋白可间接反映MSI状态,是一种可靠的MSI检测方法。

展开英文摘要原文

Endometrial cancer is the second most diagnosed gynecologic malignancy among women worldwide. The recent understanding of molecular classification of endometrial carcinoma have become important aspect of patient directed treatment. The importance of Microsatellite Instability (MSI) has been highlighted in the molecular classification emphasizing that patients belonging to MSI subgroup differ from other subgroups for molecular abnormalities, hereditary risk factors, prognosis, and response to treatment. This study was therefore conducted to investigate the frequency of MSI in endometrial carcinomas and its association with clinicopathological parameters. Total of 109 cases were enrolled in the study over a duration of 3 years. Patients' demographic data was recorded from requisition forms. Cases were examined in routine Hematoxylin and Eosin (HE) sections. Tumor infiltrating Lymphocytes (TIL) were assessed manually by criteria proposed by International Immunooncology Biomarkers Working Group. One representative paraffin block having sufficient number of viable tumor cells was selected for immunohistochemistry (IHC) staining for mismatch repair (MMR) proteins (MLH1, MSH2, MSH2 and MSH6). Out of toal 109 cases, 100 were endometrioid, 5 were serous carcinoma, 2 were clear cell and 2 were carcinosarcoma. Seventy-seven cases (71%) were proficient mismatch repair (pMMR) and thirty two (29.00%) cases were deficient mismatch repair (dMMR). MMR deficiency was seen only in endometrioid carcinomas. No association was seen with age, size, site, myometrial invasion, tumor grade, lympho-vascular invasion (LVI) and stage of the tumor. There was higher trend towards more frequent lymph node involvement. Strong association was seen with high TIL. MSI testing which has been used historically to identify patients with Lynch Syndrome and evaluate the severity and prognosis of MSI carcinomas now plays an important role in identifying patients who will benefit from targetable therapy. MMR study therefore recommended in all cases of endometrial carcinomas and detection of MMR proteins by IHC can indirectly reflect the status of MSI and is a reliable method of MSI detection.

论文信息

作者
Sharma R、Badwal S、Dhawan S
单位
Department of Pathology, Sir Ganga Ram Hospital, New Delhi, 110060 India.India
期刊
Indian journal of surgical oncology2026 Jan
原文标识
PubMed 41641417 · DOI 10.1007/s13193-025-02303-x