IDH1 Mutations Are Early Events in the Development of Astrocytomas and Oligodendrogliomas

摘要: IDH1 encodes isocitrate dehydrogenase 1, which participates in the citric acid cycle and was recently reported to be mutated 12% of glioblastomas. We assessed mutations 321 gliomas various histological types biological behaviors. A total 130 detected, all were located at amino residue 132. Of these, 91% G→A (Arg→His). frequent low-grade diffuse astrocytomas (88%) secondary glioblastomas that developed through progression from or anaplastic astrocytoma (82%). Similarly, high frequencies found oligodendrogliomas (79%) oligoastrocytomas (94%). Analyses multiple biopsies same patient (51 cases) showed there no cases an mutation occurred after acquisition either a TP53 loss 1p/19q, suggesting are very early events gliomagenesis may affect common glial precursor cell population. co-present with 63% heterozygosity 1p/19q 64% oligodendrogliomas; they rare pilocytic (10%) primary (5%) absent ependymomas. The presence their near-complete absence reinforce concept despite similarities, these subtypes genetically clinically distinct entities.