Lynch syndrome association and clinicopathological features in early-onset colorectal cancers: A single-center retrospective study.

IF 3.2 Q3 ONCOLOGY

World journal of clinical oncology Pub Date : 2025-09-24 DOI:10.5306/wjco.v16.i9.109182

Yunus Sür, Emine Özlem Gür, Fevzi Cengiz, Aslı Subaşıoğlu, İsmail Güzeliş, Sinem Demir, Aysegul Akder Sari, Mehmet Haciyanli, Osman Nuri Dilek

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引用次数: 0

Abstract

Background: Hereditary factors are more prevalent in early-onset colorectal cancers (EOCRC) etiology. Lynch syndrome (LS) is the most common hereditary colorectal cancer (CRC) syndrome that results from mutations in DNA mismatch repair (MMR) genes. This phenomenon is defined as microsatellite instability (MSI). Immunohistochemistry (IHC) is a widely used, practical, and cost-effective method for the screening of MSI. However, using IHC alone may be insufficient to identify patients with MSI and LS.

Aim: To determine the clinicopathological features in EOCRC, IHC performance, and the frequency of genetic testing for EOCRC patients.

Methods: A retrospective review was conducted on patients with CRC aged ≤ 50 years who underwent surgery at our center between January 2014 and July 2021. MMR proteins were screened using IHC. Of the 131 patients included, IHC was performed on 130. Patients were classified as MSI or microsatellite-stable (MSS), and their features were compared. Additionally, data from patients who received genetic counseling were analyzed.

Results: Thirty patients with MSI were designated as group 1, whereas 100 with MSS were defined as group 2. The mean age in group 1 was the lowest (median age: 42 vs 46, P < 0.05). Group 1 exhibited a higher frequency of tumors in the right colon and a lower frequency in the rectum. Lymph node involvement and distant metastases were less common in group 1, and in group 2, tumors were generally diagnosed at a more advanced stage. Genetic testing was performed in 53 patients (40%), with a definitive LS diagnosis established in 13/17 patients (76.4%) in group 1 and 1/36 (2.7%) patients in group 2, resulting in a total of 14 patients (26.4%) with confirmed LS.

Conclusion: MSI tumors show a better prognosis. IHC is very effective for screening MSI, but may not be sufficient alone. Low genetic counseling rates highlight the need for hospital-based surveillance programs.

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Lynch综合征与早发性结直肠癌的临床病理特征：一项单中心回顾性研究。

背景：遗传因素在早发性结直肠癌（EOCRC）病因中更为普遍。Lynch综合征（LS）是最常见的遗传性结直肠癌（CRC）综合征，由DNA错配修复（MMR）基因突变引起。这种现象被定义为微卫星不稳定性（MSI）。免疫组织化学（IHC）是一种广泛使用、实用、经济的MSI筛查方法。然而，单独使用免疫结构可能不足以识别MSI和LS患者。目的：探讨EOCRC患者的临床病理特征、免疫反应表现及基因检测频率。方法：回顾性分析2014年1月至2021年7月在我中心接受手术治疗的年龄≤50岁的结直肠癌患者。采用免疫组化法筛选MMR蛋白。在纳入的131例患者中，130例进行了免疫组化。将患者分为微卫星稳定型（MSI）和微卫星稳定型（MSS），并比较其特征。此外，还分析了接受遗传咨询的患者的数据。结果：30例MSI患者为1组，100例MSS患者为2组。1组患者平均年龄最低（中位年龄：42 vs 46， P < 0.05）。1组右结肠肿瘤发生率较高，直肠肿瘤发生率较低。淋巴结受累和远处转移在1组中较少见，而在2组中，肿瘤通常在较晚期被诊断出来。53例（40%）患者进行了基因检测，1组中13/17例（76.4%）患者和2组中1/36例（2.7%）患者确诊为LS，共14例（26.4%）患者确诊为LS。结论：MSI肿瘤预后较好。IHC对MSI筛查非常有效，但单独使用可能还不够。低遗传咨询率突出了医院监测项目的必要性。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

World journal of clinical oncology ONCOLOGY-

自引率

0.00%

发文量

585

期刊介绍： The WJCO is a high-quality, peer reviewed, open-access journal. The primary task of WJCO is to rapidly publish high-quality original articles, reviews, editorials, and case reports in the field of oncology. In order to promote productive academic communication, the peer review process for the WJCO is transparent; to this end, all published manuscripts are accompanied by the anonymized reviewers’ comments as well as the authors’ responses. The primary aims of the WJCO are to improve diagnostic, therapeutic and preventive modalities and the skills of clinicians and to guide clinical practice in oncology. Scope: Art of Oncology, Biology of Neoplasia, Breast Cancer, Cancer Prevention and Control, Cancer-Related Complications, Diagnosis in Oncology, Gastrointestinal Cancer, Genetic Testing For Cancer, Gynecologic Cancer, Head and Neck Cancer, Hematologic Malignancy, Lung Cancer, Melanoma, Molecular Oncology, Neurooncology, Palliative and Supportive Care, Pediatric Oncology, Surgical Oncology, Translational Oncology, and Urologic Oncology.