错配修复蛋白在子宫内膜癌中的表达与临床意义

Expression and clinical significance of mismatch repair proteins in endometrial carcinoma

  • 摘要:
    目的 探讨错配修复(MMR)蛋白缺失与子宫内膜癌(EC)临床病理特征的关联。
    方法 采用免疫组织化学法检测子宫内膜癌患者手术标本中MMR蛋白的表达情况, 分析MMR蛋白正常表达与缺失患者的临床病理特征及复发率是否存在统计学差异。
    结果 共纳入EC患者217例,其中MMR蛋白正常表达率与缺失率分别为74.65%和25.35%; 单一MLH1、MSH2、MSH6、PMS2缺失率分别为0.46%、0.46%、1.38%、7.83%; MLH1/PMS2、MSH2/MSH6、MLH1/MSH2/PMS2共缺失率分别为12.44%、2.30%、0.46%。MMR蛋白正常表达者(微卫星稳定组)与缺失者(微卫星不稳定组)在患者年龄、是否绝经、肿瘤分型、分化程度、肿瘤分期、肌层浸润、淋巴转移、脉管侵犯以及复发率方面比较,差异无统计学意义(P>0.05)。
    结论 MMR蛋白缺失对子宫内膜癌临床行为的影响可能并非通过传统的病理形态学指标直接体现,而是受肿瘤突变负荷、免疫微环境或其他尚未明确的分子机制综合影响。

     

    Abstract:
    Objective To investigate the association between the deficiency of mismatch repair (MMR) proteins and the clinicopathological characteristics of endometrial carcinoma (EC).
    Methods Immunohistochemistry was employed to detect the expression of MMR proteins in surgical specimens from patients with EC, and to analyze whether there were statistical differences in clinicopathological characteristics and recurrence rates between patients with normal expression and those with deficient expression of MMR proteins.
    Results A total of 217 patients with EC were included, with normal and deficient expression rates of MMR proteins being 74.65% and 25.35%, respectively. The deficiency rates of individual MLH1, MSH2, MSH6 and PMS2 were 0.46%, 0.46%, 1.38% and 7.83%, respectively. The co-deficiency rates of MLH1/PMS2, MSH2/MSH6, and MLH1/MSH2/PMS2 were 12.44%, 2.30% and 0.46%, respectively. There were no statistically significant differences in patient age, menopausal status, tumor type, degree of differentiation, tumor stage, myometrial invasion, lymph node metastasis, vascular invasion and recurrence rate between patients with normal MMR protein expression (microsatellite stable group) and those with deficient expression (microsatellite unstable group) (P>0.05).
    Conclusion The impact of MMR protein deficiency on the clinical behavior of endometrial carcinoma may not be directly reflected through traditional pathological and morphological indicators, but is influenced by a combination of tumor mutational burden, immune microenvironment, or other yet-to-be-determined molecular mechanisms.

     

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