IDH1 mutations are present in the majority of common adult gliomas but rare in primary glioblastomas

By K. Ichimura, D. Pearson, S. Kocialkowski, L. M. Bäcklund, R. Chan, David T. W. Jones, V. Collins. Neuro-Oncology, 2009

619 citations recorded by the source corpus.

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.

Subfields: Cancer Research, Genetics

View Paper: https://www.semanticscholar.org/paper/2e0e38135860294e085e352ec82c00a34a02a23c

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In Cancer Research

1. H. Ohgaki
2. P. Kleihues

In Genetics

1. H. Ohgaki
2. P. Kleihues
3. Guido Reifenberger
4. Michael Weller
5. R. Jenkins
6. McKinsey L. Goodenberger

Citations in the corpus

• The Definition of Primary and Secondary Glioblastoma (2012, background): “When IDH1 mutations are used as a genetic marker, secondary glioblastomas accounted for 9% of all glioblastomas at the population level (13) and for 6–13% in hospital-based studies (10,12,67,68).”
• Type and frequency of IDH1 and IDH2 mutations are related to astrocytic and oligodendroglial differentiation and age: a study of 1,010 diffuse gliomas (2009, background): “5% for O III comparing to 67% [1], 86% [21], 75% [17] and 60% [8].”
• Patients with IDH1 wild type anaplastic astrocytomas exhibit worse prognosis than IDH1-mutated glioblastomas, and IDH1 mutation status accounts for the unfavorable prognostic effect of higher age: implications for classification of gliomas (2010, background): “Cytosolic isocitrate dehydrogenase 1 (IDH1) mutations were initially detected in a fraction of glioblastomas [14] followed by the observation that they are present in the majority of diffuse astrocytomas, oligodendrogliomas and mixed oligoastrocytomas of WHO grades II and III [1, 7, 9, 22, 26].”