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Critical oncogenic mutations in newly diagnosed pediatric diffuse intrinsic pontine glioma
Author(s) -
Grill Jacques,
Puget Stephanie,
Andreiuolo Felipe,
Philippe Cathy,
MacConaill Laura,
Kieran Mark W.
Publication year - 2012
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.24060
Subject(s) - medicine , gene , cancer research , mutation , glioma , disease , oncology , pathology , genetics , biology
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.