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

We found that IDH1 is frequently mutated in A and AA as well as in all oligodendroglial tumor types

Koichi Ichimura; Danita M. Pearson; Sylvia Kocialkowski; L. Magnus BaŐącklund; Raymond Chan; David T.W. Jones; V. Peter Collins

2009

Scholarcy highlights

  • We screened exon 4 of the gene isocitrate dehydrogenase 1, soluble for mutations in 596 primary intracranial tumors of all major types
  • A recent report indicated that the gene isocitrate dehydrogenase 1, soluble is somatically mutated predominantly among younger patients with glioblastomas and secondary glioblastomas compared with primary glioblastomas. sGBs arise by progression of an astrocytic tumor of lower malignancy grade, while primary glioblastomas have no known precursor lesions
  • When we looked for correlations between these two completely different genomic abnormalities and IDH1 mutations, we found that the vast majority of IDH1 mutations were associated with tumor protein p53 gene mutation, total 1p/19q loss, or both
  • We identified a high frequency of IDH1 mutations in the majority of A, AA, O, AO, OA, AOA, and sGB tumors, contrasting with a mutation rate of only 3% in primary glioblastomas tumors
  • Our results show that mutations of IDH1 and/ or TP53 are the earliest common genetic abnormalities in the majority of diffuse astrocytomas
  • We showed that the ability to generate NADPH was significantly reduced in all four mutant IDH1 proteins
  • The situation is similar for the oligodendroglial tumors, where concurrent IDH1, total loss of 1p/19q, or both are the earliest common genetic abnormalities identified
  • These results are not surprising, because IDH1 mutations are involved in both oligodendroglial and astrocytic tumors and represent only one of a diverse range of genetic abnormalities, and are unlikely to be an independent prognostic factor

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