关键词: Clinical characteristics Colorectal cancer Deficient mismatch repair Immunotherapy Machine learning algorithm Microsatellite instability

Mesh : Humans Colorectal Neoplasms / pathology genetics DNA Mismatch Repair Male Female Retrospective Studies Middle Aged Aged Neoplasm Staging Microsatellite Instability Lymphatic Metastasis Adult

来  源:   DOI:10.1007/s00384-024-04674-z   PDF(Pubmed)

Abstract:
BACKGROUND: Microsatellite instability (MSI) caused by DNA mismatch repair (MMR) deficiency is of great significance in the occurrence, diagnosis and treatment of colorectal cancer (CRC).
OBJECTIVE: This study aimed to analyze the relationship between mismatch repair status and clinical characteristics of CRC.
METHODS: The histopathological results and clinical characteristics of 2029 patients who suffered from CRC and underwent surgery at two centers from 2018 to 2020 were determined. After screening the importance of clinical characteristics through machine learning algorithms, the patients were divided into deficient mismatch repair (dMMR) and proficient mismatch repair (pMMR) groups based on the immunohistochemistry results and the clinical feature data between the two groups were observed by statistical methods.
RESULTS: The dMMR and pMMR groups had significant differences in histologic type, TNM stage, maximum tumor diameter, lymph node metastasis, differentiation grade, gross appearance, and vascular invasion. There were significant differences between the MLH1 groups in age, histologic type, TNM stage, lymph node metastasis, tumor location, and depth of invasion. The MSH2 groups were significantly different in age. The MSH6 groups had significant differences in age, histologic type, and TNM stage. There were significant differences between the PMS2 groups in lymph node metastasis and tumor location. CRC was dominated by MLH1 and PMS2 combined expression loss (41.77%). There was a positive correlation between MLH1 and MSH2 and between MSH6 and PMS2 as well.
CONCLUSIONS: The proportion of mucinous adenocarcinoma, protruding type, and poor differentiation is relatively high in dMMR CRCs, but lymph node metastasis is rare. It is worth noting that the expression of MMR protein has different prognostic significance in different stages of CRC disease.
摘要:
背景:由DNA错配修复(MMR)缺陷引起的微卫星不稳定性(MSI)在发生中具有重要意义,结直肠癌(CRC)的诊断和治疗。
目的:本研究旨在分析CRC错配修复状态与临床特征的关系。
方法:确定了2018年至2020年在两个中心接受手术的2029例CRC患者的组织病理学结果和临床特征。在通过机器学习算法筛选临床特征的重要性之后,根据免疫组织化学结果将患者分为错配修复缺陷组(dMMR)和错配修复熟练组(pMMR),用统计学方法观察两组间的临床特征.
结果:dMMR和pMMR组在组织学类型上有显著差异,TNM阶段,肿瘤最大直径,淋巴结转移,分化等级,粗糙的外观,和血管侵入。MLH1组之间在年龄上有显著差异,组织学类型,TNM阶段,淋巴结转移,肿瘤位置,入侵的深度。MSH2组年龄差异显著。MSH6组年龄差异显著,组织学类型,TNM阶段。PMS2组之间在淋巴结转移和肿瘤位置方面存在显着差异。CRC以MLH1和PMS2联合表达缺失为主(41.77%)。MLH1和MSH2之间以及MSH6和PMS2之间也存在正相关。
结论:粘液腺癌的比例,突出型,dMMRCRC的分化较差,但淋巴结转移是罕见的。值得注意的是,MMR蛋白的表达在CRC疾病的不同阶段具有不同的预后意义。
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