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Odontogenic Myxomas Harbor Recurrent Copy Number Alterations and a Distinct Methylation Signature
Tony G Kleijn1, Baptiste Ameline2, Willem H Schreuder3,4
1Department of Pathology and Medical Biology, University Medical Center Groningen, Groningen, Netherlands.
The American Journal of Surgical Pathology
|September 18, 2024
Summary
Odontogenic myxomas, rare jaw tumors, show distinct DNA methylation patterns and recurrent chromosome gains. These molecular signatures may aid in future diagnosis of this locally aggressive neoplasm.
Area of Science:
- Oncology
- Genetics
- Oral Pathology
Background:
- Odontogenic myxoma is a rare, benign, yet locally aggressive tumor of the jaw.
- Current understanding of odontogenic myxoma's molecular mechanisms and diagnostic markers is limited.
Purpose of the Study:
- To investigate DNA methylation and copy number variations in odontogenic myxomas.
- To identify novel molecular signatures for improved diagnostic decision-making.
Main Methods:
- Analysis of DNA methylation and copy number variations in 12 odontogenic myxomas using Illumina Infinium Methylation EPIC array.
- Utilized unsupervised clustering and Uniform Manifold Approximation and Projection for data analysis.
Main Results:
- Odontogenic myxomas formed a distinct DNA methylation class.
- Recurrent whole-chromosome gains (trisomies) were observed on chromosomes 5, 8, 20, and in most cases, 10, 12, and 17.
Conclusions:
- Odontogenic myxomas possess unique DNA methylation profiles and copy number alterations.
- These molecular findings offer potential as supplementary diagnostic tools in clinical and radiological contexts.
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