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2022-RA-807-ESGO MLH1 promoter methylation analysis in patients with endometrial cancer stage I-II
  1. Irina Tripac1,
  2. Valentina Stratan2,
  3. Valeriu Tutuianu2,
  4. Victor Sitnic2,
  5. David Faraggi3 and
  6. Jean Calleja Agius4
  1. 1Gynaecology, Institute of Oncology, Chisinau, Moldova, Republic of
  2. 2Laboratory of Immunology and Molecular Genetics, Institute of Oncology, Chisinau, Moldova, Republic of
  3. 3University of Haifa, Haifa, Israel
  4. 4Department of Anatomy, Faculty of Medicine and Surgery, University of Malta, Malta, Malta


Introduction/Background The study included 50 patients diagnosed with endometrial cancer (EC) stage I-II. The age of these patients, on average, was 49.1 ± 12.1 years and ranged from 54 to 86 years.

Methodology The tumor DNA was extracted from mapped formalin-fixed, paraffin-embedded tissue sections to provide tumor samples for the assays (figure 1).

The methylation status of the MLH1 gene was determined using the Methylation Specific Polymerase Chain Reaction (MS-PCR) method and specific primers for both unmethylated and methylated fragments.

Results The frequency of MLH1 promoter methylation was 20.0% and was determined in 10 patients. The frequency of tumors with MLH1 promoter methylation increases during menopause, reaching 30.0% at the age of 50–59 years and 50, 0% of cases at 60–69 years and decreases in the age periods 70–79 years, reaching 20.0%.The analysis of the obtained results showed that in patients with EC, the presence of MLH1 epimutation was significantly higher in stage I of the disease.

Abstract 2022-RA-807-ESGO Figure 1

Methylation chain-specific polymerization reation workflow

Abstract 2022-RA-807-ESGO Table 1

MLH1 dependence on stage of the disease in patients with endometrial cancer in stages I-II

The presence of MLH1 epimutation was observed in 22.0% of patients with stage I EC and only in 2 stage II patients. The results of the analysis of overall survival in patients, according to the presence of MLH1 epimutation, showed that 71% of women with MLH1 epimutation and 92.5% without MLH1 epimutation survived at 3 years.

Conclusion MLH1 promoter methylation analysis would play a valuable role as a clinical biomarker.

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