Critical oncogenic mutations in newly diagnosed pediatric diffuse intrinsic pontine glioma
Corresponding Author
Jacques Grill MD, PhD
Brain Tumor Program, Department of Pediatric and Adolescent Oncology, Gustave Roussy Cancer Institute, Universite Paris Sud, Villejuif, France
Director.
Brain Tumor Program, Department of Pediatric and Adolescent Oncology, Gustave Roussy Cancer Institute, Universite Paris Sud, Villejuif, France.===Search for more papers by this authorStephanie Puget MD, PhD
Department of Neurosurgery, Hopital Necker-Enfants Malades, Universite Paris Descartes, Paris, France
Search for more papers by this authorFelipe Andreiuolo MD
Histo-Cytopathology Module, Translational Medicine Program, Gustave Roussy Cancer Institute, Universite Paris Sud, Villejuif, France
CNRS 8203 “Vectorology and Anticancer Treatments”, Research Pavillon 2, Gustave Roussy Cancer Institute, Villejuif, France
Search for more papers by this authorCathy Philippe
CNRS 8203 “Vectorology and Anticancer Treatments”, Research Pavillon 2, Gustave Roussy Cancer Institute, Villejuif, France
Search for more papers by this authorLaura MacConaill PhD
Center for Cancer Genome Discovery, Personalized Cancer Medicine Partnership, Dana-Farber Cancer Institute and Brigham and Women's Hospital, Boston, Massachusetts
Scientific Director.
Search for more papers by this authorMark W. Kieran MD, PhD
Pediatric Medical Neuro-Oncology, Dana-Farber Cancer Institute and Children's Hospital Boston, Pediatric Hematology/Oncology, Boston, Massachusetts
Director.
Search for more papers by this authorCorresponding Author
Jacques Grill MD, PhD
Brain Tumor Program, Department of Pediatric and Adolescent Oncology, Gustave Roussy Cancer Institute, Universite Paris Sud, Villejuif, France
Director.
Brain Tumor Program, Department of Pediatric and Adolescent Oncology, Gustave Roussy Cancer Institute, Universite Paris Sud, Villejuif, France.===Search for more papers by this authorStephanie Puget MD, PhD
Department of Neurosurgery, Hopital Necker-Enfants Malades, Universite Paris Descartes, Paris, France
Search for more papers by this authorFelipe Andreiuolo MD
Histo-Cytopathology Module, Translational Medicine Program, Gustave Roussy Cancer Institute, Universite Paris Sud, Villejuif, France
CNRS 8203 “Vectorology and Anticancer Treatments”, Research Pavillon 2, Gustave Roussy Cancer Institute, Villejuif, France
Search for more papers by this authorCathy Philippe
CNRS 8203 “Vectorology and Anticancer Treatments”, Research Pavillon 2, Gustave Roussy Cancer Institute, Villejuif, France
Search for more papers by this authorLaura MacConaill PhD
Center for Cancer Genome Discovery, Personalized Cancer Medicine Partnership, Dana-Farber Cancer Institute and Brigham and Women's Hospital, Boston, Massachusetts
Scientific Director.
Search for more papers by this authorMark W. Kieran MD, PhD
Pediatric Medical Neuro-Oncology, Dana-Farber Cancer Institute and Children's Hospital Boston, Pediatric Hematology/Oncology, Boston, Massachusetts
Director.
Search for more papers by this authorAbstract
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. Pediatr Blood Cancer 2012; 58: 489–491. © 2011 Wiley Periodicals, Inc.
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