Frequency and clinicopathologic features of DNA mismatch repair protein deficiency in colorectal carcinoma in Turkish population

Mismatch repair deficiency in colorectal carcinoma




Colorectal cancer, microsatellite instability, mismatch repair deficiency, prognosis



Objective: Microsatellite instability pathway caused by loss of DNA “Mismatch Repair genes” (MMR) is responsible of Lynch Syndrome-related tumors and 10-15% of sporadic colorectal cancers. Although MSI-test is regarded as the golden standard for detection of “Lynch Syndrome-related tumors”, there are increasing evidence on similar analytic sensitivity of immunohistochemical evaluations.

Methods: We retrospectively evaluated 1,002 colorectal tumors for loss of DNA MMR protein (MLH1, PMS2, MSH2, MSH6) immunohistochemically. The results were correlated with clinicopathological features and high level-microsatellite instability (MSI-H) related histological parameters.

Results: MMR protein expression loss was observed in 9.8% of the cases. MLH1-PMS2 loss (53.2%) was the most common loss followed by MSH2-MSH6 (31.6%), isolated PMS2 loss (12%), and isolated MSH6 loss (2%). MMR deficiency was more frequent under 50 years-old (p<0.0001), in right colon tumors (p<0.0001), poorly differentiated tumors (p<0.0001), tumors with tumor infiltrating lymphocytes (p<0.0001), mucinous component (p=0.001), and medullary component (p<0.0001). Also MMR deficiency was less frequent in tumor with tumor budding (p<0.0001) and dirty necrosis (p<0.0001). The 5 years-survival rate was 55.7%. No significant correlation was found with MMR deficiency and survival.

Conclusions: MMR deficiency was observed in 9.8% of the cases with distinct clinicopathological features. The results were consistent with previous studies.  Unlike the literature, we did not find any statistically significant difference between MMR deficiency and prognosis.


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How to Cite

Yıldırım, F., Sezak, M., Yoldaş, T. ., Karabulut, B., & Doğanavşargil, B. (2024). Frequency and clinicopathologic features of DNA mismatch repair protein deficiency in colorectal carcinoma in Turkish population: Mismatch repair deficiency in colorectal carcinoma. The Injector, 3(1), 10–23.



Original Article