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- Title
Insights into MLH1 Methylation in Endometrial Adenocarcinoma through Pyrosequencing Analysis: A Retrospective Observational Study.
- Authors
Silva, Fábio França Vieira e; Ballini, Andrea; Caponio, Vito Carlo Alberto; Pérez-Sayáns, Mario; Cortés, Marina Gándara; Rojo-Álvarez, Laura Isabel; García-García, Abel; Suaréz-Peñaranda, José Manuel; Di Domenico, Marina; Padín-Iruegas, María Elena
- Abstract
Simple Summary: MLH1 methylation status was accessed by a Pyrosequencing (PSQ) assay, and the results point to the efficacy of PSQ for evaluating MLH1 methylation. While unmethylation appears to be associated with a higher relapse rate, the survival rate does not seem to be influenced by methylation. Quantitative percentages suggest that elevated MLH1 methylation is linked to relapse and mortality, though a study with a larger sample size would be essential for statistically significant results. Background: In cancer care, the MLH1 gene is crucial for DNA mismatch repair (MMR), serving as a vital tumor suppressor. Evaluating MLH1 protein expression status, followed by analysis of MLH1 promoter methylation, has become a key diagnostic and prognostic approach. Our study investigates the complex link between MLH1 methylation and prognosis in endometrial adenocarcinoma (EA) patients. Methodology: MLH1 methylation status was accessed by a Pyrosequencing (PSQ) assay. Qualitative positivity for methylation was established if it exceeded the 11% cut-off; as well, a quantitative methylation analysis was conducted to establish correlations with clinicopathological data, relapse-free survival, and disease-free survival. Results: Our study revealed that 33.3% of patients without MLH1 methylation experienced relapses, surpassing the 23.3% in patients with methylation. Furthermore, 16.7% of patients without methylation succumbed to death, with a slightly higher rate of 17.6% in methylated patients. Qualitative comparisons highlighted that the mean methylation rate in patients experiencing relapse was 35.8%, whereas in those without relapse, it was 42.2%. This pattern persisted in disease-specific survival (DSS), where deceased patients exhibited a higher mean methylation level of 49.1% compared to living patients with 38.8%. Conclusions: Our findings emphasize the efficacy of PSQ for evaluating MLH1 methylation. While unmethylation appears to be associated with a higher relapse rate, the survival rate does not seem to be influenced by methylation. Quantitative percentages suggest that elevated MLH1 methylation is linked to relapse and mortality, though a study with a larger sample size would be essential for statistically significant results.
- Subjects
ADENOCARCINOMA; CANCER relapse; SCIENTIFIC observation; RETROSPECTIVE studies; DESCRIPTIVE statistics; TUMOR suppressor genes; DNA methylation; ENDOMETRIAL tumors; PROGRESSION-free survival; SEQUENCE analysis; EVALUATION
- Publication
Cancers, 2024, Vol 16, Issue 11, p2119
- ISSN
2072-6694
- Publication type
Article
- DOI
10.3390/cancers16112119