Critical oncogenic mutations in newly diagnosed pediatric diffuse intrinsic pontine glioma

Pediatr Blood Cancer. 2012 Apr;58(4):489-91. doi: 10.1002/pbc.24060. Epub 2011 Dec 20.


Diffuse intrinsic pontine gliomas (DIPG) can not be cured with current treatment modalities. Targeted therapy in this disease would benefit from advanced technologies detecting relevant drugable mutations. Twenty patients with classic newly diagnosed DIPG underwent stereotactic biopsies and were analyzed for the presence of 983 different mutations in 115 oncogenes and tumor-suppressor genes using OncoMap, a mass spectrometric method of allele detection. Our results identified oncogenic mutations in TP53 (40%), PI3KCA (15%), and ATM/MPL (5%) while none were identified in a large number of other genes commonly mutated in malignant gliomas. The identification of oncogenic mutations in the PI3K pathway offers the potential of a therapeutic target at initial diagnosis in this devastating disease.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Ataxia Telangiectasia Mutated Proteins
  • Biopsy
  • Brain Stem Neoplasms / genetics*
  • Brain Stem Neoplasms / pathology
  • Brain Stem Neoplasms / therapy
  • Cell Cycle Proteins / genetics*
  • DNA-Binding Proteins / genetics*
  • Female
  • Humans
  • Male
  • Mutation*
  • Nuclear Proteins / genetics*
  • Pons*
  • Protein-Serine-Threonine Kinases / genetics*
  • Transcription Factors / genetics*
  • Tumor Suppressor Protein p53 / genetics*
  • Tumor Suppressor Proteins / genetics*


  • Cell Cycle Proteins
  • DNA-Binding Proteins
  • Nuclear Proteins
  • PI3KCA protein, human
  • Transcription Factors
  • Tumor Suppressor Protein p53
  • Tumor Suppressor Proteins
  • ATM protein, human
  • Ataxia Telangiectasia Mutated Proteins
  • Protein-Serine-Threonine Kinases