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Published on: August 25, 2023
CpG island methylation in sporadic and neurofibromatis type 2-associated schwannomas
Pilar Gonzalez-Gomez1, M Josefa Bello, M Eva Alonso
1Department of C. Experimental, Laboratorio Oncogenetica Molecular, Hospital Universitario La Paz, Madrid, Spain.
Purpose:
The purpose of this research was to examine the DNA methylation profile of schwannomas.
Experimental Design:
We examined the DNA methylation status of 12 tumor-related genes (NF2, RB1, p14(ARF), p16(INK4a), p73, TIMP-3, MGMT, DAPK, THBS1, caspase-8, TP53, and GSTP1) in 44 sporadic and/or NF2-associated schwannomas using methylation-specific PCR.
Results:
The most frequently methylated genes were THBS1 (36%), p73 (27%), MGMT (20%), NF2 (18%), and TIMP-3 (18%). The RB1/p16INK4a gene pair displayed aberrant methylayed alleles in 15% of cases, whereas methylation was relatively rare in the other genes (<5%). Methylation was tumor specific because it was absent in two nonneoplastic nerve sheath samples and two nonneoplastic brain samples studied as controls.
Conclusions:
Our findings indicate that aberrant methylation seems to be a mechanism for NF2 gene inactivation, considered an early step in schwannoma tumorigenesis, and as well, aberrant hypermethylation of other tumor-related genes might represent secondary events that also contribute to the development of these tumors.

