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Analysis of CIC-associated CpG island methylation in oligoastrocytoma.
Sahm, F; Lass, U; Herold-Mende, C; von Deimling, A; Hartmann, C; Mueller, W.
Afiliação
  • Sahm F; Department of Neuropathology, Ruprecht-Karls-Universität Heidelberg, Heidelberg, Germany; Clinical Cooperation Unit Neuropathology G380, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Neuropathol Appl Neurobiol ; 39(7): 831-6, 2013 Dec.
Article em En | MEDLINE | ID: mdl-23521081
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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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Oligodendroglioma / Cromossomos Humanos Par 1 / Cromossomos Humanos Par 19 / Neoplasias Encefálicas / Ilhas de CpG / Metilação de DNA Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2013 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Oligodendroglioma / Cromossomos Humanos Par 1 / Cromossomos Humanos Par 19 / Neoplasias Encefálicas / Ilhas de CpG / Metilação de DNA Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2013 Tipo de documento: Article