Analysis of the IDH1 codon 132 mutation in brain tumors

By Jörg Balss, Jochen Meyer, W. Mueller, A. Korshunov, C. Hartmann, A. Deimling. Acta Neuropathologica, 2008

1,023 citations recorded by the source corpus.

Subfields: Cancer Research, Genetics, Pulmonary and Respiratory Medicine

View Paper: https://www.semanticscholar.org/paper/9e36f8583ab074a6f56ecbb58170393242607273

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In Pulmonary and Respiratory Medicine

Citations in the corpus

The Definition of Primary and Secondary Glioblastoma (2012, background): “of all glioblastomas at the population level (13) and for 6% to 13% in hospital-based studies (10, 12, 67, 68).”
Identification of a CpG island methylator phenotype that defines a distinct subgroup of glioma. (2010, background): “Higher IDH1 mutation rates are seen in grade II and III astrocytomas and oligodendrogliomas (Balss et al., 2008; Bleeker et al., 2009; Hartmann et al., 2009; Yan et al., 2009), suggesting that IDH1 mutations generally occur in the progressive form of glioma, rather than in de novo GBM.”
IDH1 Mutations as Molecular Signature and Predictive Factor of Secondary Glioblastomas (2009, background): “IDH1mutations have been reported rare or absent in primary glioblastomas, other nervous system tumors (6, 7), or a variety of neoplasms at other organ sites (8, 9).”
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].”
Cancer-associated IDH1 mutations produce 2-hydroxyglutarate (2009, neutral): “Normalized LC–MS signal for the reductive reaction (rxn) product alone, an R(2)-2HG standard alone, and the two together (rxn 1 R(2)-2HG) are shown, as is the signal for a racemic mixture of R(2) and S(1) forms (2HG racemate) alone or with the reaction products (rxn 1 racemate).”
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].”
Cancer-associated metabolite 2-hydroxyglutarate accumulates in acute myelogenous leukemia with isocitrate dehydrogenase 1 and 2 mutations (2010, background): “…has revealed that this mutation is present in a high proportion of gliomas and secondary glioblastomas, but not in other human malignancies (Balss et al., 2008; Bleeker et al., 2009; Hartmann et al., 2009; Kang et al., 2009; Sanson et al., 2009; Watanabe et al., 2009; Yan et al., 2009).”
Hotspot mutations in H3F3A and IDH1 define distinct epigenetic and biological subgroups of glioblastoma. (2012, background): “Furthermore, IDH1 or IDH2 mutations, which are found in up to 98% of adult secondary GBM, are very rare in childhood GBM (<10%) (Antonelli et al., 2010; Balss et al., 2008; De Carli et al., 2009; Paugh et al., 2010; Pollack et al., 2011; Schiffman et al., 2010; Setty et al., 2010; Yan et al., 2009).”