# Clinicopathological Implications of Mismatch Repair Status in Endometrioid Endometrial Cancer in Duhok City

**Authors:** Ghorbat S Ali, Rafil T Yaqo, Mahdi A Abdullah

PMC · DOI: 10.7759/cureus.56861 · Cureus · 2024-03-25

## TL;DR

This study examines the role of DNA mismatch repair in endometrial cancer in Duhok City, finding that many patients had a defective repair system linked to older age.

## Contribution

The study provides local data on MMR status in endometrioid endometrial cancer and its clinicopathological correlations in Duhok City.

## Key findings

- 44% of patients showed loss in nuclear expression of MMR proteins.
- MLH1 and PMS2 protein loss was the most common, at 18%.
- Most patients with d-MMR were over 50 years old.

## Abstract

Background: DNA mismatch repair (MMR) is a specialized system that corrects errors in DNA replication, namely, base substitution mismatches and minor insertion-deletion mismatches. The deficient mismatch repair (d-MMR) protein plays a vital role in predicting the prognosis of endometrioid carcinoma. The study aimed to determine the prevalence of MMR errors in endometrial cancer (EC) and their correlation with clinicopathological features.

Methods: We examined the immunohistochemistry presence of four MMR proteins in 50 samples of EC tissues that were preserved in formalin and embedded in paraffin. The proteins identified were MutL homolog 1 (MLH1), post-meiotic segregation increased 2 (PMS2), MutS homolog 2 (MSH2), and MutS homolog 6 (MSH6). The study examined several clinicopathological characteristics and conducted MMR phenotyping.

Results: The findings revealed that among the 50 cases of EC, 40% of patients had grade I disease and 78% had stage I malignancy. Furthermore, among the 50 individuals evaluated, 56% exhibited competence in MMR, whereas 44% displayed loss in nuclear expression of MMR. The rate of MLH1 and PMS2 protein loss was recorded as the greatest, at 18%, while the loss of MSH2 and MSH6 was documented at 6%. Within the same range, the majority of patients with d-MMR were above the age of 50 years.

Conclusion: The majority of the recruited EC patients in this study showed advanced age and a high percentage of d-MMR status.

## Linked entities

- **Genes:** MLH1 (mutL homolog 1) [NCBI Gene 4292], PMS2 (PMS1 homolog 2, mismatch repair system component) [NCBI Gene 5395], MSH2 (mutS homolog 2) [NCBI Gene 4436], MSH6 (mutS homolog 6) [NCBI Gene 2956]
- **Proteins:** MSH2 (MUTS homolog 2), MSH6 (MUTS homolog 6)
- **Diseases:** endometrial cancer (MONDO:0002447)

## Full-text entities

- **Genes:** PMS2 (PMS1 homolog 2, mismatch repair system component) [NCBI Gene 5395] {aka HNPCC4, LYNCH4, MLH4, MMRCS4, PMS-2, PMSL2}, MSH2 (mutS homolog 2) [NCBI Gene 4436] {aka COCA1, FCC1, HNPCC, HNPCC1, LCFS2, LYNCH1}, MLH1 (mutL homolog 1) [NCBI Gene 4292] {aka COCA2, FCC2, HNPCC, HNPCC2, LYNCH2, MLH-1}, MSH6 (mutS homolog 6) [NCBI Gene 2956] {aka GTBP, GTMBP, HNPCC5, HSAP, LYNCH5, MMRCS3}
- **Diseases:** malignancy (MESH:D009369), EC (MESH:D016889), endometrioid carcinoma (MESH:D018269)
- **Chemicals:** paraffin (MESH:D010232), formalin (MESH:D005557)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## Figures

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## References

33 references — full list in the complete paper: https://tomesphere.com/paper/PMC11040277/full.md

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Source: https://tomesphere.com/paper/PMC11040277