Analysis of CIC-associated CpG island methylation in oligoastrocytoma
Aims Combined deletion of the whole chromosomal arms 1p and 19q is a frequent event in oligodendroglial tumours. Recent identification of recurrent mutations in CIC on 19q and FUBP1 on 1p and their mutational patterns suggest a loss of function of the respective proteins. Surprisingly, oligoastrocyt...
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| Main Authors: | , , , , , |
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| Format: | Article (Journal) |
| Language: | English |
| Published: |
25 March 2013
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| In: |
Neuropathology & applied neurobiology
Year: 2013, Volume: 39, Issue: 7, Pages: 831-836 |
| ISSN: | 1365-2990 |
| DOI: | 10.1111/nan.12045 |
| Online Access: | Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1111/nan.12045 Verlag, lizenzpflichtig, Volltext: https://onlinelibrary.wiley.com/doi/abs/10.1111/nan.12045 
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| Author Notes: | F. Sahm, U. Lass, C. Herold-Mende, A. von Deimling, C. Hartmann, W. Mueller |
| Summary: | Aims Combined deletion of the whole chromosomal arms 1p and 19q is a frequent event in oligodendroglial tumours. Recent identification of recurrent mutations in CIC on 19q and FUBP1 on 1p and their mutational patterns suggest a loss of function of the respective proteins. Surprisingly, oligoastrocytomas harbouring identical genetic characteristics regarding 1p/19q codeletion and frequent IDH1/2 mutations have been shown to carry CIC mutations in a significantly lower number of cases. The present study investigates whether epigenetic modification may result in silencing of CIC. Methods As IDH1/2 mutation-mediated DNA hypermethylation is a prominent feature of these tumours, we analysed a set of CIC wild-type oligoastrocytomas and other diffuse gliomas with regard to 1p/19q status for presence of CIC-associated CpG island methylation by methylation-specific PCR. Results Both methylation-specific PCR and subsequent bisulphite-sequencing of selected cases revealed an unmethylated status in all samples. Conclusion Despite the hypermethylator phenotype in IDH1/2 mutant tumours and recent detection of gene silencing particularly on retained alleles in oligodendroglial tumours, hypermethylation of CIC-associated CpG islands does not provide an alternative mechanism of functional CIC protein abrogation. |
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| Item Description: | Gesehen am 25.01.2022 |
| Physical Description: | Online Resource |
| ISSN: | 1365-2990 |
| DOI: | 10.1111/nan.12045 |