000294583 001__ 294583
000294583 005__ 20241124014022.0
000294583 0247_ $$2doi$$a10.1186/s40478-024-01881-1
000294583 0247_ $$2pmid$$apmid:39558399
000294583 0247_ $$2pmc$$apmc:PMC11575044
000294583 0247_ $$2altmetric$$aaltmetric:170890016
000294583 037__ $$aDKFZ-2024-02358
000294583 041__ $$aEnglish
000294583 082__ $$a610
000294583 1001_ $$aTauziède-Espariat, Arnault$$b0
000294583 245__ $$aDiffuse pediatric high-grade glioma of methylation-based RTK2A and RTK2B subclasses present distinct radiological and histomolecular features including Gliomatosis cerebri phenotype.
000294583 260__ $$aLondon$$bBiomed Central$$c2024
000294583 3367_ $$2DRIVER$$aarticle
000294583 3367_ $$2DataCite$$aOutput Types/Journal article
000294583 3367_ $$0PUB:(DE-HGF)16$$2PUB:(DE-HGF)$$aJournal Article$$bjournal$$mjournal$$s1732113853_5932
000294583 3367_ $$2BibTeX$$aARTICLE
000294583 3367_ $$2ORCID$$aJOURNAL_ARTICLE
000294583 3367_ $$00$$2EndNote$$aJournal Article
000294583 520__ $$aDiffuse pediatric-type high-grade gliomas (pedHGG), H3- and IDH-wildtype, encompass three main DNA-methylation-based subtypes: pedHGG-MYCN, pedHGG-RTK1A/B/C, and pedHGG-RTK2A/B. Since their first description in 2017 tumors of pedHGG-RTK2A/B have not been comprehensively characterized and clinical correlates remain elusive. In a recent series of pedHGG with a Gliomatosis cerebri (GC) growth pattern, an increased incidence of pedHGG-RTK2A/B (n = 18) was observed. We added 14 epigenetically defined pedHGG-RTK2A/B tumors to this GC series and provided centrally reviewed radiological, histological, and molecular characterization. The final cohort of 32 pedHGG-RTK2A/B tumors consisted of 25 pedHGG-RTK2A (78%) and seven pedHGG-RTK2B (22%) cases. The median age was 11.6 years (range, 4-17) with a median overall survival of 16.0 months (range 10.9-28.2). Seven of 11 of the newly added cases with imaging available showed a GC phenotype at diagnosis or follow-up. PedHGG-RTK2B tumors exhibited frequent bithalamic involvement (6/7, 86%). Central neuropathology review confirmed a diffuse glial neoplasm in all tumors with prominent angiocentric features in both subclasses. Most tumors (24/27 with available data, 89%) diffusely expressed EGFR with focal angiocentric enhancement. PedHGG-RTK2A tumors lacked OLIG2 expression, whereas 43% (3/7) of pedHGG-RTK2B expressed this glial transcription factor. ATRX loss occurred in 3/6 pedHGG-RTK2B samples with available data (50%). DNA sequencing (pedHGG-RTK2A: n = 18, pedHGG-RTK2B: n = 5) found EGFR alterations (15/23, 65%; predominantly point mutations) in both subclasses. Mutations in BCOR (14/18, 78%), SETD2 (7/18, 39%), and the hTERT promoter (7/19, 37%) occurred exclusively in pedHGG-RTK2A tumors, while pedHGG-RTK2B tumors were enriched for TP53 alterations (4/5, 80%). In conclusion, pedHGG-RTK2A/B tumors are characterized by highly diffuse-infiltrating growth patterns and specific radiological and histo-molecular features. By comprehensively characterizing methylation-based tumors, the chance to develop specific and effective therapy concepts for these detrimental tumors increases.
000294583 536__ $$0G:(DE-HGF)POF4-312$$a312 - Funktionelle und strukturelle Genomforschung (POF4-312)$$cPOF4-312$$fPOF IV$$x0
000294583 588__ $$aDataset connected to CrossRef, PubMed, , Journals: inrepo02.dkfz.de
000294583 650_7 $$2Other$$aGliomatosis cerebri
000294583 650_7 $$2Other$$aMethylation
000294583 650_7 $$2Other$$aPediatric high-grade glioma
000294583 650_7 $$2Other$$aRTK2A
000294583 650_7 $$2Other$$aRTK2B
000294583 650_7 $$2Other$$aReceptor tyrosine kinase
000294583 650_7 $$2Other$$apedHGG
000294583 650_2 $$2MeSH$$aHumans
000294583 650_2 $$2MeSH$$aChild
000294583 650_2 $$2MeSH$$aMale
000294583 650_2 $$2MeSH$$aFemale
000294583 650_2 $$2MeSH$$aBrain Neoplasms: genetics
000294583 650_2 $$2MeSH$$aBrain Neoplasms: pathology
000294583 650_2 $$2MeSH$$aBrain Neoplasms: diagnostic imaging
000294583 650_2 $$2MeSH$$aAdolescent
000294583 650_2 $$2MeSH$$aChild, Preschool
000294583 650_2 $$2MeSH$$aNeoplasms, Neuroepithelial: genetics
000294583 650_2 $$2MeSH$$aNeoplasms, Neuroepithelial: pathology
000294583 650_2 $$2MeSH$$aNeoplasms, Neuroepithelial: diagnostic imaging
000294583 650_2 $$2MeSH$$aDNA Methylation
000294583 650_2 $$2MeSH$$aGlioma: genetics
000294583 650_2 $$2MeSH$$aGlioma: pathology
000294583 650_2 $$2MeSH$$aGlioma: diagnostic imaging
000294583 650_2 $$2MeSH$$aPhenotype
000294583 7001_ $$aFriker, Lea L$$b1
000294583 7001_ $$aNussbaumer, Gunther$$b2
000294583 7001_ $$aBison, Brigitte$$b3
000294583 7001_ $$aDangouloff-Ros, Volodia$$b4
000294583 7001_ $$aMétais, Alice$$b5
000294583 7001_ $$aSumerauer, David$$b6
000294583 7001_ $$aZamecnik, Josef$$b7
000294583 7001_ $$aBenesch, Martin$$b8
000294583 7001_ $$aPerwein, Thomas$$b9
000294583 7001_ $$avan Vuurden, Dannis$$b10
000294583 7001_ $$aWesseling, Pieter$$b11
000294583 7001_ $$aLa Madrid, Andrés Morales$$b12
000294583 7001_ $$aGarrè, Maria Luisa$$b13
000294583 7001_ $$aAntonelli, Manila$$b14
000294583 7001_ $$aGiangaspero, Felice$$b15
000294583 7001_ $$aPietsch, Torsten$$b16
000294583 7001_ $$0P:(DE-He78)a46a5b2a871859c8e2d63d2f8c666807$$aSturm, Dominik$$b17$$udkfz
000294583 7001_ $$0P:(DE-He78)551bb92841f634070997aa168d818492$$aJones, David T W$$b18$$udkfz
000294583 7001_ $$0P:(DE-He78)f746aa965c4e1af518b016de3aaff5d9$$aPfister, Stefan M$$b19$$udkfz
000294583 7001_ $$aGrabovska, Yura$$b20
000294583 7001_ $$aMackay, Alan$$b21
000294583 7001_ $$aJones, Chris$$b22
000294583 7001_ $$aGrill, Jacques$$b23
000294583 7001_ $$aAjlil, Yassine$$b24
000294583 7001_ $$avon Bueren, André O$$b25
000294583 7001_ $$aKarremann, Michael$$b26
000294583 7001_ $$aHoffmann, Marion$$b27
000294583 7001_ $$aKramm, Christof M$$b28
000294583 7001_ $$aKwiecien, Robert$$b29
000294583 7001_ $$aCastel, David$$b30
000294583 7001_ $$aGielen, Gerrit H$$b31
000294583 7001_ $$aVarlet, Pascale$$b32
000294583 773__ $$0PERI:(DE-600)2715589-4$$a10.1186/s40478-024-01881-1$$gVol. 12, no. 1, p. 176$$n1$$p176$$tActa Neuropathologica Communications$$v12$$x2051-5960$$y2024
000294583 909CO $$ooai:inrepo02.dkfz.de:294583$$pVDB
000294583 9101_ $$0I:(DE-588b)2036810-0$$6P:(DE-He78)a46a5b2a871859c8e2d63d2f8c666807$$aDeutsches Krebsforschungszentrum$$b17$$kDKFZ
000294583 9101_ $$0I:(DE-588b)2036810-0$$6P:(DE-He78)551bb92841f634070997aa168d818492$$aDeutsches Krebsforschungszentrum$$b18$$kDKFZ
000294583 9101_ $$0I:(DE-588b)2036810-0$$6P:(DE-He78)f746aa965c4e1af518b016de3aaff5d9$$aDeutsches Krebsforschungszentrum$$b19$$kDKFZ
000294583 9131_ $$0G:(DE-HGF)POF4-312$$1G:(DE-HGF)POF4-310$$2G:(DE-HGF)POF4-300$$3G:(DE-HGF)POF4$$4G:(DE-HGF)POF$$aDE-HGF$$bGesundheit$$lKrebsforschung$$vFunktionelle und strukturelle Genomforschung$$x0
000294583 9141_ $$y2024
000294583 915__ $$0StatID:(DE-HGF)0100$$2StatID$$aJCR$$bACTA NEUROPATHOL COM : 2022$$d2023-10-26
000294583 915__ $$0StatID:(DE-HGF)0200$$2StatID$$aDBCoverage$$bSCOPUS$$d2023-10-26
000294583 915__ $$0StatID:(DE-HGF)0300$$2StatID$$aDBCoverage$$bMedline$$d2023-10-26
000294583 915__ $$0StatID:(DE-HGF)0320$$2StatID$$aDBCoverage$$bPubMed Central$$d2023-10-26
000294583 915__ $$0StatID:(DE-HGF)0501$$2StatID$$aDBCoverage$$bDOAJ Seal$$d2023-05-02T09:09:14Z
000294583 915__ $$0StatID:(DE-HGF)0500$$2StatID$$aDBCoverage$$bDOAJ$$d2023-05-02T09:09:14Z
000294583 915__ $$0StatID:(DE-HGF)0030$$2StatID$$aPeer Review$$bDOAJ : Anonymous peer review$$d2023-05-02T09:09:14Z
000294583 915__ $$0StatID:(DE-HGF)0600$$2StatID$$aDBCoverage$$bEbsco Academic Search$$d2023-10-26
000294583 915__ $$0StatID:(DE-HGF)0030$$2StatID$$aPeer Review$$bASC$$d2023-10-26
000294583 915__ $$0StatID:(DE-HGF)0199$$2StatID$$aDBCoverage$$bClarivate Analytics Master Journal List$$d2023-10-26
000294583 915__ $$0StatID:(DE-HGF)1050$$2StatID$$aDBCoverage$$bBIOSIS Previews$$d2023-10-26
000294583 915__ $$0StatID:(DE-HGF)0113$$2StatID$$aWoS$$bScience Citation Index Expanded$$d2023-10-26
000294583 915__ $$0StatID:(DE-HGF)0150$$2StatID$$aDBCoverage$$bWeb of Science Core Collection$$d2023-10-26
000294583 915__ $$0StatID:(DE-HGF)1190$$2StatID$$aDBCoverage$$bBiological Abstracts$$d2023-10-26
000294583 915__ $$0StatID:(DE-HGF)0160$$2StatID$$aDBCoverage$$bEssential Science Indicators$$d2023-10-26
000294583 915__ $$0StatID:(DE-HGF)9905$$2StatID$$aIF >= 5$$bACTA NEUROPATHOL COM : 2022$$d2023-10-26
000294583 915__ $$0StatID:(DE-HGF)0561$$2StatID$$aArticle Processing Charges$$d2023-10-26
000294583 915__ $$0StatID:(DE-HGF)0700$$2StatID$$aFees$$d2023-10-26
000294583 9201_ $$0I:(DE-He78)B360-20160331$$kB360$$lPädiatrische Gliomforschung$$x0
000294583 9201_ $$0I:(DE-He78)B062-20160331$$kB062$$lB062 Pädiatrische Neuroonkologie$$x1
000294583 9201_ $$0I:(DE-He78)HD01-20160331$$kHD01$$lDKTK HD zentral$$x2
000294583 980__ $$ajournal
000294583 980__ $$aVDB
000294583 980__ $$aI:(DE-He78)B360-20160331
000294583 980__ $$aI:(DE-He78)B062-20160331
000294583 980__ $$aI:(DE-He78)HD01-20160331
000294583 980__ $$aUNRESTRICTED