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Comparative Lesions Analysis Through a Targeted Sequencing Approach
Published on: November 5, 2019
Analysis of PTEN methylation patterns in soft tissue sarcomas by MassARRAY spectrometry
Liang Yin1, Wei-Juan Cai, Chun-Xia Liu
1Department of Pathology and Laboratory of Xinjiang Endemic and Ethnic Diseases, Shihezi University School of Medicine, Shihezi, Xinjiang, PR China.
Plos One
|May 22, 2013
Summary
PTEN hypermethylation is common in soft tissue sarcomas (STSs), leading to decreased PTEN expression. This promoter hypermethylation may serve as a potential biomarker for STSs.
Area of Science:
- Oncology
- Molecular Biology
- Epigenetics
Background:
- Soft tissue sarcomas (STSs) are rare cancers with subtypes including specific reciprocal translocations in STSs (SRTSs) and nonspecific reciprocal translocations in STSs (NRTSs).
- PTEN mutations are infrequent in STSs, suggesting alternative mechanisms like methylation contribute to PTEN loss.
- PTEN is a crucial tumor suppressor gene, and its dysregulation can drive cancer development.
Purpose of the Study:
- To investigate the occurrence and role of PTEN promoter methylation in STSs.
- To determine if PTEN hypermethylation correlates with decreased PTEN expression in STSs.
- To explore the potential of PTEN methylation as a diagnostic biomarker for STSs.
Main Methods:
- MassARRAY Spectrometry was employed to analyze PTEN methylation patterns across 41 CpG sites in amplicons A and B.
- Immunohistochemistry (IHC) was used to assess PTEN protein expression levels.
- Methylation and expression data were analyzed in 110 STS cases (46 SRTSs, 40 NRTSs) and 24 normal controls.
Main Results:
- PTEN expression was diminished in 57% of STSs analyzed.
- Amplicon A (promoter region) showed significant hypermethylation in STSs with low PTEN expression compared to normal controls (P<0.0001).
- No significant differences in methylation were observed in amplicon B or between SRTS and NRTS subtypes, and PTEN mutations were rare (2.3%).
Conclusions:
- PTEN hypermethylation in the promoter region is a common event in STSs, frequently associated with reduced PTEN expression.
- PTEN inactivation in STSs is primarily driven by promoter hypermethylation rather than mutation.
- Aberrant methylation of PTEN CpG sites presents a potential biomarker for soft tissue sarcomas.
