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结直肠癌的临床、免疫组织化学和炎症特征:错配修复缺陷的影响

Clinical, Immunohistochemical, and Inflammatory Profiles in Colorectal Cancer: The Impact of MMR Deficiency.

作者信息

Ionescu Vlad Alexandru, Gheorghe Gina, Baban Ioana Alexandra, Barbu Alexandru, Antonie Ninel Iacobus, Georgescu Teodor Florin, Bratu Razvan Matei, Diaconu Carmen Cristina, Mambet Cristina, Bleotu Coralia, Enache Valentin, Diaconu Camelia Cristina

机构信息

Faculty of Medicine, University of Medicine and Pharmacy Carol Davila Bucharest, 050474 Bucharest, Romania.

Internal Medicine Department, Clinical Emergency Hospital of Bucharest, 105402 Bucharest, Romania.

出版信息

Diagnostics (Basel). 2025 Aug 25;15(17):2141. doi: 10.3390/diagnostics15172141.

Abstract

Mismatch repair (MMR) deficiency assessment has proven to be a valuable tool for prognostic evaluation and therapeutic management guidance in patients with colorectal cancer (CRC). Our study aimed to investigate the associations between MMR deficiency and a range of clinicopathological parameters. We conducted a retrospective observational study including 264 patients diagnosed with CRC, for whom immunohistochemical (IHC) data were available. Statistical analysis was performed using the Python 3.12.7 programming language within the Jupyter Notebook environment (Anaconda distribution). MMR deficiency was identified in 18.18% of patients. It was significantly associated with younger age (<50 years), female sex, right-sided tumor location, poor tumor differentiation (G3), smoking, and loss of CDX2 expression ( < 0.001). MLH1 and PMS2 were the most frequently affected proteins, with concurrent loss in 77.08% of MMR-deficient cases. Loss of MLH1 expression correlated with female sex ( = 0.004), right-sided location ( < 0.001), poor differentiation ( < 0.001), and loss of CDX2 expression ( < 0.001). Additionally, the loss of PMS2 expression was associated with female sex ( = 0.015), right-sided tumor location ( = 0.003), and poor differentiation ( < 0.001). No significant associations were identified between MMR status and tumor stage, histological subtype, PLR, or NLR values. Gaining deeper insights into the clinical relevance of MMR status in CRC could contribute to improved testing rates and support the design of tailored management strategies that address the specific biological features of these tumors.

摘要

错配修复(MMR)缺陷评估已被证明是结直肠癌(CRC)患者预后评估和治疗管理指导的重要工具。我们的研究旨在探讨MMR缺陷与一系列临床病理参数之间的关联。我们进行了一项回顾性观察研究,纳入了264例诊断为CRC且有免疫组织化学(IHC)数据的患者。使用Jupyter Notebook环境(Anaconda发行版)中的Python 3.12.7编程语言进行统计分析。18.18%的患者被确定为MMR缺陷。它与较年轻的年龄(<50岁)、女性、肿瘤位于右侧、肿瘤分化差(G3)、吸烟以及CDX2表达缺失显著相关(<0.001)。MLH1和PMS2是最常受影响的蛋白,在77.08%的MMR缺陷病例中同时缺失。MLH1表达缺失与女性(=0.004)、右侧位置(<0.001)、分化差(<0.001)以及CDX2表达缺失(<0.001)相关。此外,PMS2表达缺失与女性(=0.015)、肿瘤位于右侧(=0.003)以及分化差(<0.001)相关。未发现MMR状态与肿瘤分期、组织学亚型、血小板与淋巴细胞比率(PLR)或中性粒细胞与淋巴细胞比率(NLR)值之间存在显著关联。深入了解CRC中MMR状态的临床相关性有助于提高检测率,并支持设计针对这些肿瘤特定生物学特征的个性化管理策略。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b40e/12428193/09f336904b29/diagnostics-15-02141-g001.jpg

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