期刊
NEURO-ONCOLOGY
卷 11, 期 4, 页码 341-347出版社
OXFORD UNIV PRESS INC
DOI: 10.1215/15228517-2009-025
关键词
astrocytoma; oligodendroglioma; 1p/19q loss; oxidative stress; p53
资金
- Cancer Research UK
- Samantha Dickson Brain Tumour Trust
- Jacqueline Seroussi Memorial Foundation for Cancer Research
- Cambridge Fund for the Prevention of Disease (CAMPOD)
We screened exon 4 of the gene isocitrate dehydrogenase 1 (NADP+), soluble (IDH1) for mutations in 596 primary intracranial tumors of all major types. Codon 132 mutation was seen in 54% of astrocytomas and 65% of oligodendroglial tumors but in only 6% of glioblastomas (3% of primary and 50% of secondary glioblastomas). There were no mutations in any other type of tumor studied. While mutations in the tumor protein p53 gene (TP53) and total 1p/19q deletions were mutually exclusive, IDH1 mutations were strongly correlated with these genetic abnormalities. All four types of mutant IDH1 proteins showed decreased enzymatic activity. The data indicate that IDH1 mutation combined with either TP53 mutation or total 1p/19q loss is a frequent and early change in the majority of oligodendroglial tumors, diffuse astrocytomas, anaplastic astrocytomas, and secondary glioblastomas but not in primary glioblastomas. Neuro-Oncology 11, 341-347, 2009 ( Posted to Neuro-Oncology [serial online], Doc. D08-00331, May 12, 2009. URL http://neuro-oncology.dukejournals.org; DOI: 10.1215/15228517-2009-025)
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