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Updated: Jun 24, 2026
Genome-Wide Analysis of DNA Methylation in Gastrointestinal Cancer
Published on: September 18, 2020
Detecting methylation patterns of p16, MGMT, DAPK and E-cadherin genes in multiple myeloma patients
O Ozalp Yuregir1, E Yurtcu, E Kizilkilic
1Department of Medical Genetics, Baskent University Faculty of Medicine, Ankara, Turkey.
Abstract:
Multiple myeloma (MM) is a B-cell neoplasia characterized by the clonal proliferation of plasma cells. Besides known genetic abnormalities, epigenetic changes are also known to effect MM pathogenesis. DNA methylation is an epigenetic mechanism that silences genes by adding methyl groups to cytosine-guanine dinucleotides at the promoter regions. In this study, the methylation status of four genes; p16, O6-methyl guanine DNA methyl transferase (MGMT), death-associated protein kinase (DAPK) and E-cadherin (ECAD); at the time of diagnosis was investigated using methylation-specific polymerase chain reaction (MS-PCR). In the 20 cases studied; methylation of the promoter regions of p16, MGMT, DAPK and ECAD genes was detected in 10%, 40%, 10% and 45% of the cases, respectively. In 65% (13/20) of cases, at least one of the genes studied had promoter methylation; while 35% of cases (7/20) had methylated promoters of more than one gene. There was a significant correlation between promoter hypermethylation of MGMT and the presence of extramedullary involvement; but for the other genes no correlation was found regarding disease properties like age, disease stage, clinical course and the presence of lytic bone lesions. Determining the methylation profiles of genes in MM, could lead to a new understanding of the disease pathogenesis and guide the assessment of treatment options.
Insights
Epigenetic changes, specifically DNA methylation in genes like MGMT, are implicated in multiple myeloma (MM) pathogenesis. Promoter hypermethylation of MGMT correlated with extramedullary involvement in MM patients.
Area of Science:
- Oncology
- Epigenetics
- Molecular Biology
Background:
- Multiple myeloma (MM) is a plasma cell neoplasm.
- Epigenetic alterations, including DNA methylation, contribute to MM development.
- DNA methylation silences gene expression by modifying promoter regions.
Purpose of the Study:
- To investigate the promoter methylation status of four key genes (p16, MGMT, DAPK, ECAD) in multiple myeloma at diagnosis.
- To explore correlations between gene promoter methylation and clinical characteristics of MM.
Main Methods:
- Methylation-specific polymerase chain reaction (MS-PCR) was used.
- Analyzed methylation status of p16, O6-methyl guanine DNA methyl transferase (MGMT), death-associated protein kinase (DAPK), and E-cadherin (ECAD) genes.
- Examined 20 cases of multiple myeloma at the time of diagnosis.
Main Results:
- Promoter methylation was detected in 10% (p16), 40% (MGMT), 10% (DAPK), and 45% (ECAD) of cases.
- At least one gene promoter was methylated in 65% of cases; multiple genes were methylated in 35%.
- MGMT promoter hypermethylation showed a significant correlation with extramedullary involvement.
Conclusions:
- Gene promoter methylation is a frequent epigenetic event in multiple myeloma.
- MGMT hypermethylation may serve as a potential biomarker for extramedullary disease in MM.
- Further research into methylation profiles could enhance understanding of MM pathogenesis and treatment strategies.
