@article {Kim850, author = {Young-Ho Kim and Daniela Pierscianek and Michel Mittelbronn and Anne Vital and Luigi Mariani and Martin Hasselblatt and Hiroko Ohgaki}, title = {TET2 promoter methylation in low-grade diffuse gliomas lacking IDH1/2 mutations}, volume = {64}, number = {10}, pages = {850--852}, year = {2011}, doi = {10.1136/jclinpath-2011-200133}, publisher = {BMJ Publishing Group}, abstract = {Background Miscoding mutations of the TET2 gene, which encodes the α-ketoglutarate-dependent enzyme that catalyses the conversion of 5-methylcytosine to 5-hydroxymethylcytosine, thus producing DNA demethylation, have been detected in 10{\textendash}25\% of acute myeloid leukaemias lacking IDH1/2 mutations. Most low-grade diffuse gliomas carry IDH1/2 mutations (\>85\%), but molecular mechanisms of pathogenesis in those lacking IDH1/2 mutations remain to be elucidated.Methods Miscoding mutations and promoter methylation of the TET2 gene were screened for in 29 low-grade diffuse gliomas lacking IDH1/2 mutations.Results Single-strand conformational polymorphism followed by direct sequencing showed the absence of miscoding mutations in TET2. Methylation-specific PCR revealed methylation of the TET2 promoter in 5 of 35 cases (14\%). In contrast, none of 38 low-grade diffuse gliomas with IDH1/2 mutations had TET2 promoter methylation (p=0.0216).Conclusion Results suggest that TET2 promoter methylation, but not TET2 mutation, may be an alternative mechanism of pathogenesis in a small fraction of low-grade diffuse gliomas lacking IDH1/2 mutations.}, issn = {0021-9746}, URL = {https://jcp.bmj.com/content/64/10/850}, eprint = {https://jcp.bmj.com/content/64/10/850.full.pdf}, journal = {Journal of Clinical Pathology} }