GENETIC ALTERATIONS OF ISOCITRATE DEHYDROGENASE GENE AND OTHER GENES IN MALIGNANT GLIOMA

摘要

PROBLEM TO BE SOLVED: To provide methods for characterizing glioblastoma multiforme (GBM) tumor in human subjects.SOLUTION: We found mutations of the R132 residue of isocitrate dehydrogenase (IDH)1 in the majority of grade II and III astrocytomas and oligodendrogliomas as well as in glioblastomas developed from these lower grade lesions. Those tumors not having mutation in IDH1 often had mutations at the analogous R172 residue of the closely related IDH2 gene. A GBM tumor derived from a human subject is analyzed to identify the presence or absence of mutation at codon 132 in IDH1 or at codon 172 in IDH2 so as to determine, if somatic mutation is present, possibility of secondary GBM is high, and if not, the possibility of primary GBM is high.SELECTED DRAWING: Figure 1