Department of Pathology, Faculty of Medicine, Kandahar University, Kandahar, Afghanistan.
Department of Pathology and Laboratory, Kulliyyah of Medicine, International Islamic University Malaysia (IIUM), Kuantan, Pahang, Malaysia.
Diagn Pathol. 2024 Nov 29;19(1):155. doi: 10.1186/s13000-024-01571-5.
Recently, screening of colorectal cancer (CRC) patients for mismatch repair/microsatellite instability (MMR/MSI) status is widely practiced due to its potential predictive and prognostic roles and a screening tool to reveal Lynch Syndrome (LS). The purpose of the study was to evaluate concordance between immunohistochemistry (IHC) and MSI analysis methods for detection of MMR/MSI status in colorectal cancer patients in Kuantan, Pahang.
Fifty selected CRC cases of deficient mismatch repair (dMMR) and proficient mismatch repair (pMMR) which were identified immunohistochemically in the previous study were subjected to MSI analysis. MSI Analysis System 1.2 (Promega) was utilized.
The results of MSI analysis method showed MSI-High: 26% (13/50), MSI-Low: 6% (3/50), and Microsatellite Stable: 68% (34/50). The concordance was perfect (0.896, Kappa value) between MSI analysis and IHC methods for the assessment of MMR/MSI status in CRC patients. The discordance was only 4% (2/50). MSI analysis identified all dMMR cases determined by IHC except one case. The obtained frequency of dMMR and pMMR patients was 11.4% (14/123) and 88.6% (109/123) by IHC method, respectively.
Our findings support the universal practice of evaluating the MMR/MSI status in all newly diagnosed CRC patients. Based on the perfect concordance of two methods, the method of choice is based on the availability of expertise and equipments. IHC is highly appreciable method due to its feasibility and reproducibility.
由于错配修复/微卫星不稳定性（MMR/MSI）状态检测具有潜在的预测和预后作用，并且是发现林奇综合征（LS）的筛查工具，因此最近广泛对结直肠癌（CRC）患者进行 MMR/MSI 状态筛查。本研究的目的是评估免疫组织化学（IHC）和 MSI 分析方法在检测关丹彭亨 CRC 患者 MMR/MSI 状态中的一致性。
对之前研究中免疫组织化学检测为缺陷型错配修复（dMMR）和功能型错配修复（pMMR）的 50 例 CRC 病例进行 MSI 分析。采用 MSI 分析系统 1.2（Promega）。
MSI 分析方法的结果显示 MSI-High：26%（13/50），MSI-Low：6%（3/50），微卫星稳定：68%（34/50）。MSI 分析和 IHC 方法评估 CRC 患者 MMR/MSI 状态的一致性为极好（0.896，Kappa 值）。仅存在 4%（2/50）的差异。MSI 分析除了一个病例外，还确定了所有由 IHC 确定的 dMMR 病例。IHC 方法确定的 dMMR 和 pMMR 患者的频率分别为 11.4%（14/123）和 88.6%（109/123）。
我们的研究结果支持对所有新诊断的 CRC 患者普遍进行 MMR/MSI 状态评估。两种方法的一致性极好，选择方法取决于专业知识和设备的可用性。由于其可行性和可重复性，IHC 是一种非常有价值的方法。
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