Concordance and Correlation Analysis of Mismatch Repair and Microsatellite Status in 412 Cases of  Colorectal Cancer in Yunnan Province

Anmin WANG; Zhongfa LIU; Chunhui YANG; Guangsi ZOU; Chengmin SHI; Yujian ZENG

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Anmin WANG, Zhongfa LIU, Chunhui YANG, Guangsi ZOU, Chengmin SHI, Yujian ZENG. Concordance and Correlation Analysis of Mismatch Repair and Microsatellite Status in 412 Cases of Colorectal Cancer in Yunnan Province[J]. Journal of Kunming Medical University.

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Concordance and Correlation Analysis of Mismatch Repair and Microsatellite Status in 412 Cases of Colorectal Cancer in Yunnan Province

1.
Department of General Surgery，Guandu District People’s Hospital，Kunming Yunnan 650299
2.
Department of General Surgery，The First People’s Hospital of Anning City Affiliated to Kunming University of Science and Technology，Kunming Yunnan 650300
3.
Department of General Surgery，The Second People’s Hospital of Baoshan City，Baoshan Yunnan 678000
4.
Department of Gastrointestinal Surgery，The First Affiliated Hospital of Kunming Medical University，Kunming Yunnan 650032，China

Available Online: 2025-11-27

Abstract

Abstract

Objective To investigate the concordance between mismatch repair （MMR） protein and microsatellite instability （MSI） detection in colorectal cancer （CRC） in Yunnan Province, the similarity of their biological characteristics, and to preliminarily screen independent factors that may lead to discordance between the two detection methods. Methods A retrospective collection of medical records from 412 native Yunnan CRC patients who visited the First Affiliated Hospital of Kunming Medical University between January 2021 and December 2024 was conducted. Kappa analysis was employed to assess the concordance between MMR and MSI testing, with percentags representing the matching degree between MMR and MSI status. Chi-square test was used for univariate analysis, Bonferroni correction for multiple comparisons, and logistic regression models for multivariate analysis to further screen independent factors associated with discordance between these two detection methods. Results （1） Consistency: Among 412 colorectal cancer patients in Yunnan Province, the incidence of deficient MMR （dMMR） and microsatellite instability-high （MSI-H） were 12.1% and 8.5%, respectively. Using MSI testing as the gold standard, the sensitivity and specificity of MMR testing were 82.9% and 94.4%, respectively, with positive and negative predictive values of 58.0% and 98.3%, respectively. The overall concordance rate between the two tests was 93.5%. Kappa analysis demonstrated high concordance between the two assays across the general population, Han Chinese patients, and ethnic minority patients （general population: Kappa=0.647 > 0.6, P < 0.001; Han Chinese patients: Kappa=0.621 > 0.6, P < 0.001; ethnic minority patients: Kappa=0.808 > 0.8, P < 0.001）. （2） MMR protein deficiency patterns: Among 50 dMMR patients, the most prevalent deficiency type was combined MLH1-PMS2 deletion （42.0%）, and MSI-H accounted for 58.0% in dMMR patients, of which MSH2-MSH6 combined deficiency showed the highest proportion of MSI-H （85.7%）. （3） Biological characteristic similarities: History of polyposis, tumour location, differentiation degree, and M stage were all independently associated with MSI and MMR status. Additionally, MSI status was independently associated with age, family history of cancer, and tumour size （P < 0.05）. （4） Independent factors associated with MMR-MSI test concordance: History of polyposis and tumour location were independently associated with concordance between the two tests; while tumour location and differentiation degree were independently associated with concordance of MSI detection in dMMR （P < 0.05）. Conclusion In Yunnan Province, MMR and MSI testing for colorectal cancer （CRC） demonstrate high concordance and biological characteristic similarity. MSI-H CRC is predominantly found in patients with age <50 years, family history of tumors or history of polyps, tumor diameter ≥5 cm, right-sided colon cancer, poorly differentiated carcinoma, and without distant metastases. Clinically, attention should be paid to further verification of discordant results between MMR and MSI detection: overall, CRC with history of polyps and non-rectal location is more prone to discordance between the two detection methods; while in dMMR type CRC, patients with moderately to well-differentiated carcinoma and left-sided colon cancer are more prone to discordance between the two detection methods.
- Colorectal cancer,
- Mismatch repair,
- Microsatellite instability,
- Concordance,
- Correlation

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