{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,21]],"date-time":"2026-08-21T12:44:39Z","timestamp":1787316279322,"version":"build-2736575974"},"reference-count":37,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2017,8,9]],"date-time":"2017-08-09T00:00:00Z","timestamp":1502236800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100010128","name":"Lasten Sy\u00f6p\u00e4s\u00e4\u00e4ti\u00f6 V\u00e4reen","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100010128","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Blood &amp; Cancer"],"published-print":{"date-parts":[[2018,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Diffuse intrinsic pontine gliomas (DIPGs) have a dismal prognosis. Previously, diagnosis was based on a typical clinical presentation and magnetic resonance imaging findings. After the start of the era of biopsies, DIPGs bearing H3 K27 mutations have been reclassified into a novel entity, diffuse midline glioma, based on the presence of this molecular alteration. However, it is not well established how clinically diagnosed DIPG overlap with H3 K27\u2010mutated diffuse midline gliomas, and whether rare long\u2010term survivors also belong to this group.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We studied tumor samples obtained at diagnosis or upon autopsy from 23 children, including two long\u2010term survivors. Based on clinical, radiological, and histological findings, all tumors were previously diagnosed as DIPGs. All samples were analyzed for genetic alterations by next\u2010generation sequencing (NGS) and for protein expression by immunohistochemistry (IHC).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      H3 K27 was mutated in NGS or IHC in 20 patients, excluding both long\u2010term survivors. One of these long\u2010term survivors harbored a mutation in\n                      <jats:italic>IDH1<\/jats:italic>\n                      , formerly considered to be an alteration absent in pediatric diffuse brainstem gliomas. Other altered genes in NGS included\n                      <jats:italic>TP53<\/jats:italic>\n                      (10 patients),\n                      <jats:italic>MET<\/jats:italic>\n                      and\n                      <jats:italic>PDGFRA<\/jats:italic>\n                      (3 patients each),\n                      <jats:italic>VEGFR<\/jats:italic>\n                      and\n                      <jats:italic>SMARCA4<\/jats:italic>\n                      (2 patients each), and\n                      <jats:italic>PPAR\u03b3, PTEN<\/jats:italic>\n                      and\n                      <jats:italic>EGFR<\/jats:italic>\n                      in 1 patient, respectively. IHC revealed cMYC expression in 15 of 24 (63%) of all samples, exclusively in the biopsies.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      Eighty\u2010seven percent of the tumors formerly diagnosed as DIPGs could be reclassified as H3 K27\u2010mutated diffuse midline gliomas. Both long\u2010term survivors lacked this alteration. Contrary to former conceptions,\n                      <jats:italic>IDH1<\/jats:italic>\n                      mutations may occur also in pediatric brainstem gliomas.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/pbc.26751","type":"journal-article","created":{"date-parts":[[2017,8,9]],"date-time":"2017-08-09T09:26:43Z","timestamp":1502270803000},"source":"Crossref","is-referenced-by-count":15,"title":["Molecular alterations in pediatric brainstem gliomas"],"prefix":"10.1002","volume":"65","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7356-7257","authenticated-orcid":false,"given":"Mikaela","family":"Porkholm","sequence":"first","affiliation":[{"name":"Department of Children and Adolescents Helsinki University Hospital and University of Helsinki  Helsinki Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Raunio","sequence":"additional","affiliation":[{"name":"Department of Pathology University of Helsinki and HUSLAB  Helsinki Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reetta","family":"Vainionp\u00e4\u00e4","sequence":"additional","affiliation":[{"name":"Laboratory of Pathology and Genetics HUSLAB  Helsinki Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tarja","family":"Salonen","sequence":"additional","affiliation":[{"name":"Laboratory of Pathology and Genetics HUSLAB  Helsinki Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juha","family":"Hernesniemi","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery Helsinki University Hospital and University of Helsinki  Helsinki Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leena","family":"Valanne","sequence":"additional","affiliation":[{"name":"Department of Radiology Helsinki University Hospital and University of Helsinki  Helsinki Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jarno","family":"Satop\u00e4\u00e4","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery Helsinki University Hospital and University of Helsinki  Helsinki Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Atte","family":"Karppinen","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery Helsinki University Hospital and University of Helsinki  Helsinki Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Minna","family":"Oinas","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery Helsinki University Hospital and University of Helsinki  Helsinki Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olli","family":"Tynninen","sequence":"additional","affiliation":[{"name":"Department of Pathology University of Helsinki and HUSLAB  Helsinki Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Virve","family":"Pentik\u00e4inen","sequence":"additional","affiliation":[{"name":"Division of Hematology\u2010Oncology and Stem Cell Transplantation, Children's Hospital Helsinki University Hospital  Helsinki Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sanna\u2010Maria","family":"Kivivuori","sequence":"additional","affiliation":[{"name":"Department of Children and Adolescents Helsinki University Hospital and University of Helsinki  Helsinki Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,8,9]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.3389\/fonc.2012.00205"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.3389\/fonc.2015.00147"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-015-1478-0"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-012-0998-0"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.1102"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2936"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2925"},{"key":"e_1_2_8_9_1","volume-title":"WHO Classification of Tumors in the Central Nervous System","author":"Louis DN","year":"2016"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/bpa.12173"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/pbc.25045"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0076-6879(08)02814-0"},{"key":"e_1_2_8_13_1","volume-title":"WHO Classification of Tumours of the Central Nervous System","author":"Louis DN","year":"2007"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature10833"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2938"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2950"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/nm.3855"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-014-1319-6"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10014-014-0202-4"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1111\/bpa.12023"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ccr.2012.08.024"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1111\/bpa.12336"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1097\/PAS.0b013e318294e817"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1158\/0008-5472.CAN-13-1491"},{"key":"e_1_2_8_25_1","first-page":"304","article-title":"The relationship between TP53 mutations and overexpression of p53 and prognosis in malignant gliomas of childhood","volume":"57","author":"Pollack IF","year":"1997","journal-title":"Cancer Res"},{"key":"e_1_2_8_26_1","doi-asserted-by":"publisher","DOI":"10.1093\/neuonc\/noq158"},{"key":"e_1_2_8_27_1","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2011.35.5677"},{"key":"e_1_2_8_28_1","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2009.26.7252"},{"key":"e_1_2_8_29_1","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2009.25.5463"},{"key":"e_1_2_8_30_1","doi-asserted-by":"publisher","DOI":"10.1158\/1078-0432.CCR-14-0831"},{"key":"e_1_2_8_31_1","doi-asserted-by":"publisher","DOI":"10.1186\/s40478-015-0269-0"},{"key":"e_1_2_8_32_1","doi-asserted-by":"publisher","DOI":"10.1093\/neuonc\/nov264"},{"key":"e_1_2_8_33_1","doi-asserted-by":"publisher","DOI":"10.3892\/ol.2013.1650"},{"key":"e_1_2_8_34_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.critrevonc.2016.05.012"},{"key":"e_1_2_8_35_1","doi-asserted-by":"publisher","DOI":"10.1158\/2159-8290.CD-15-0507"},{"key":"e_1_2_8_36_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2012.03.003"},{"key":"e_1_2_8_37_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbagrm.2014.07.004"},{"key":"e_1_2_8_38_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0030313"}],"container-title":["Pediatric Blood &amp; Cancer"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpbc.26751","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pbc.26751","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,29]],"date-time":"2023-09-29T20:53:46Z","timestamp":1696020826000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/pbc.26751"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,8,9]]},"references-count":37,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2018,1]]}},"alternative-id":["10.1002\/pbc.26751"],"URL":"https:\/\/doi.org\/10.1002\/pbc.26751","archive":["Portico"],"relation":{},"ISSN":["1545-5009","1545-5017"],"issn-type":[{"value":"1545-5009","type":"print"},{"value":"1545-5017","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,8,9]]},"article-number":"e26751"}}