IDH1 mutation in pediatric gliomas: has it a diagnostic and prognostic value?

Fetal Pediatr Pathol. 2012 Oct;31(5):278-82. doi: 10.3109/15513815.2012.659383. Epub 2012 Mar 20.

Abstract

Mutations in IDH1 gene are observed in gliomas with significant differences according to histotype, grade, prognosis, and age. We analyzed the IDH1 gene mutations frequency in 42 gliomas from 40 children (14 pilocytic astrocytomas; 3 pilomyxoid astrocytomas; 3 diffuse astrocytomas; 1 gliomatosi cerebri; 8 subependymal giant cell astrocytomas; 2 anaplastic astrocytomas; 9 glioblastomas). No IDH1 mutation was detected. Our results indicate that there is no IDH1 gene involvement in the onset and progression of pediatric astrocytomas. We argue that it is not useful in children to assess the status of IDH1 gene nor for diagnostic nor prognostic purposes.

MeSH terms

  • Adolescent
  • Astrocytoma / diagnosis
  • Astrocytoma / genetics*
  • Astrocytoma / metabolism
  • Biomarkers, Tumor / genetics
  • Biomarkers, Tumor / metabolism
  • Brain Neoplasms / diagnosis
  • Brain Neoplasms / genetics*
  • Brain Neoplasms / metabolism
  • Child
  • Child, Preschool
  • DNA Mutational Analysis
  • Disease Progression
  • Humans
  • Infant
  • Isocitrate Dehydrogenase / genetics*
  • Isocitrate Dehydrogenase / metabolism
  • Mutation*
  • Retrospective Studies

Substances

  • Biomarkers, Tumor
  • Isocitrate Dehydrogenase
  • IDH1 protein, human