Acta Neuropathologica

, Volume 117, Issue 6, pp 653–656

Selective acquisition of IDH1 R132C mutations in astrocytomas associated with Li-Fraumeni syndrome

  • Takuya Watanabe
  • Anne Vital
  • Sumihito Nobusawa
  • Paul Kleihues
  • Hiroko Ohgaki
Original Paper

DOI: 10.1007/s00401-009-0528-x

Cite this article as:
Watanabe, T., Vital, A., Nobusawa, S. et al. Acta Neuropathol (2009) 117: 653. doi:10.1007/s00401-009-0528-x

Abstract

Mutations of the IDH1 gene are frequent in gliomas, with R132H (CGT → CAT) being the most common (>85%). In astrocytomas, IDH1 mutations are typically co-present with, or precede, TP53 mutations. We assessed IDH1 mutations in brain tumors diagnosed in patients from three families with Li-Fraumeni syndrome. We identified IDH1 mutations in five astrocytomas that developed in carriers of a TP53 germline mutation. Without exception, all were R132C (CGT → TGT), which in sporadic astrocytomas accounts for <5% of IDH1 mutations. This remarkably selective occurrence of R132C mutations may reflect differences in the sequence of genetic events, with a preference for R132C mutations in astrocytes or precursor cells that already carry a germline TP53 mutation.

Keywords

Li-Fraumeni syndrome IDH1 mutation Astrocytoma TP53 germline mutation 

Copyright information

© Springer-Verlag 2009

Authors and Affiliations

  • Takuya Watanabe
    • 1
  • Anne Vital
    • 2
  • Sumihito Nobusawa
    • 1
  • Paul Kleihues
    • 3
  • Hiroko Ohgaki
    • 1
  1. 1.Pathology GroupInternational Agency for Research on CancerLyonFrance
  2. 2.Bordeaux Institute of NeuroscienceBordeauxFrance
  3. 3.Department of PathologyUniversity Hospital ZurichZurichSwitzerland