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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\u2010suppressor genes using OncoMap, a mass spectrometric method of allele detection. Our results identified oncogenic mutations in <jats:italic>TP53<\/jats:italic> (40%), <jats:italic>PI3KCA<\/jats:italic> (15%), and <jats:italic>ATM\/MPL<\/jats:italic> (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\u2013491. \u00a9 2011 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/pbc.24060","type":"journal-article","created":{"date-parts":[[2011,12,20]],"date-time":"2011-12-20T15:31:06Z","timestamp":1324395066000},"page":"489-491","source":"Crossref","is-referenced-by-count":115,"title":["Critical oncogenic mutations in newly diagnosed pediatric diffuse intrinsic pontine glioma"],"prefix":"10.1002","volume":"58","author":[{"given":"Jacques","family":"Grill","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie","family":"Puget","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Felipe","family":"Andreiuolo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cathy","family":"Philippe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"MacConaill","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark W.","family":"Kieran","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2011,12,20]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00381-011-1468-z"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.3171\/2008.11.PEDS08281"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1093\/neuonc\/noq158"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2009.25.5463"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2006.07.8626"},{"key":"e_1_2_6_7_2","article-title":"Genomic aberrations in pediatric diffuse intrinsic pontine gliomas","author":"Warren KE","year":"2011","journal-title":"Neuro Oncol"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2011.35.5677"},{"key":"e_1_2_6_9_2","first-page":"1","article-title":"Stereotactic biopsy of diffuse pontine lesions in children","volume":"107","author":"Roujeau T","year":"2007","journal-title":"J Neurosurg"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1975"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0007887"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejca.2009.03.007"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1093\/neuonc\/noq141"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2009.27.4944"},{"key":"e_1_2_6_15_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2010-04-279083"},{"key":"e_1_2_6_16_2","doi-asserted-by":"publisher","DOI":"10.1097\/00005072-199309000-00009"},{"key":"e_1_2_6_17_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkm099"},{"key":"e_1_2_6_18_2","doi-asserted-by":"publisher","DOI":"10.1002\/j.1460-2075.1993.tb05744.x"},{"key":"e_1_2_6_19_2","doi-asserted-by":"publisher","DOI":"10.1158\/1535-7163.MCT-06-0336"},{"key":"e_1_2_6_20_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0021632"},{"key":"e_1_2_6_21_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0022769"},{"key":"e_1_2_6_22_2","article-title":"Underexpression and abnormal localization of ATM products in ataxia telangiectasia patients bearing ATM missense mutations","author":"Jacquemin V","year":"2011","journal-title":"Eur J Hum Genet"},{"key":"e_1_2_6_23_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0023396"}],"container-title":["Pediatric Blood &amp; Cancer"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpbc.24060","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpbc.24060","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pbc.24060","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T12:34:36Z","timestamp":1697632476000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/pbc.24060"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,12,20]]},"references-count":22,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2012,4]]}},"alternative-id":["10.1002\/pbc.24060"],"URL":"https:\/\/doi.org\/10.1002\/pbc.24060","archive":["Portico"],"relation":{},"ISSN":["1545-5009","1545-5017"],"issn-type":[{"value":"1545-5009","type":"print"},{"value":"1545-5017","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,12,20]]}}}