Genetic Alterations in Isocitrate Dehydrogenase and Other Genes in Malignant Glioma

摘要

We found mutations of the R132 residue of isocitrate dehydrogenase 1 (IDH1) in the majority of grade II and III astrocytomas and oligodendrogliomas as well as in glioblastomas that develop from these lower grade lesions. Those tumors without mutations in IDH1 often had mutations at the analogous R172 residue of the closely related IDH2 gene. These findings have important implications for the pathogenesis and diagnosis of malignant gliomas.

主权项

1. A method to aid in analyzing isocitrate dehydrogenase 1 (IDH1) gene or isocitrate dehydrogenase 2 (IDH2) gene in a sample from a human subject, wherein the human subject has a tumor selected from the group consisting of diffuse astrocytoma, oligoastrocytoma, anaplastic astrocytoma, anaplastic oligoastrocytoma, oligodendroglioma, glioblastoma multiforme, and anaplastic oligodendrogliomas, comprising:
performing a sequencing reaction on nucleic acids from the sample wherein the sample comprises: a codon for Histidine, Serine, Cysteine, Leucine, or Glycine at codon 132 of IDH1; or a codon for Lysine, Glycine, or Methionine at codon 172 of IDH2.