Blog
About

121
views
0
recommends
+1 Recommend
1 collections
    2
    shares
      • Record: found
      • Abstract: found
      • Article: found

      IDH1 and IDH2 mutations in gliomas.

      The New England journal of medicine

      Young Adult, Tumor Cells, Cultured, genetics, Oligodendroglioma, Neoplasms, Mutation, Kaplan-Meier Estimate, metabolism, Isocitrate Dehydrogenase, Humans, enzymology, Glioma, Glioblastoma, Disease Progression, DNA Mutational Analysis, Brain Neoplasms, Astrocytoma, Adult

      Read this article at

      ScienceOpenPublisherPMC
      Bookmark
          There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

          Abstract

          A recent genomewide mutational analysis of glioblastomas (World Health Organization [WHO] grade IV glioma) revealed somatic mutations of the isocitrate dehydrogenase 1 gene (IDH1) in a fraction of such tumors, most frequently in tumors that were known to have evolved from lower-grade gliomas (secondary glioblastomas). We determined the sequence of the IDH1 gene and the related IDH2 gene in 445 central nervous system (CNS) tumors and 494 non-CNS tumors. The enzymatic activity of the proteins that were produced from normal and mutant IDH1 and IDH2 genes was determined in cultured glioma cells that were transfected with these genes. We identified mutations that affected amino acid 132 of IDH1 in more than 70% of WHO grade II and III astrocytomas and oligodendrogliomas and in glioblastomas that developed from these lower-grade lesions. Tumors without mutations in IDH1 often had mutations affecting the analogous amino acid (R172) of the IDH2 gene. Tumors with IDH1 or IDH2 mutations had distinctive genetic and clinical characteristics, and patients with such tumors had a better outcome than those with wild-type IDH genes. Each of four tested IDH1 and IDH2 mutations reduced the enzymatic activity of the encoded protein. Mutations of NADP(+)-dependent isocitrate dehydrogenases encoded by IDH1 and IDH2 occur in a majority of several types of malignant gliomas. 2009 Massachusetts Medical Society

          Related collections

          Author and article information

          Journal
          10.1056/NEJMoa0808710
          2820383
          19228619

          Comments

          Comment on this article