000287282 001__ 287282
000287282 005__ 20241125123459.0
000287282 0247_ $$2doi$$a10.1007/s00401-023-02674-x
000287282 0247_ $$2pmid$$apmid:38265522
000287282 0247_ $$2ISSN$$a0001-6322
000287282 0247_ $$2ISSN$$a1432-0533
000287282 0247_ $$2altmetric$$aaltmetric:158684986
000287282 037__ $$aDKFZ-2024-00207
000287282 041__ $$aEnglish
000287282 082__ $$a610
000287282 1001_ $$aPohl, Lara C$$b0
000287282 245__ $$aMolecular characteristics and improved survival prediction in a cohort of 2023 ependymomas.
000287282 260__ $$aHeidelberg$$bSpringer$$c2024
000287282 3367_ $$2DRIVER$$aarticle
000287282 3367_ $$2DataCite$$aOutput Types/Journal article
000287282 3367_ $$0PUB:(DE-HGF)16$$2PUB:(DE-HGF)$$aJournal Article$$bjournal$$mjournal$$s1706196538_5729
000287282 3367_ $$2BibTeX$$aARTICLE
000287282 3367_ $$2ORCID$$aJOURNAL_ARTICLE
000287282 3367_ $$00$$2EndNote$$aJournal Article
000287282 520__ $$aThe diagnosis of ependymoma has moved from a purely histopathological review with limited prognostic value to an integrated diagnosis, relying heavily on molecular information. However, as the integrated approach is still novel and some molecular ependymoma subtypes are quite rare, few studies have correlated integrated pathology and clinical outcome, often focusing on small series of single molecular types. We collected data from 2023 ependymomas as classified by DNA methylation profiling, consisting of 1736 previously published and 287 unpublished methylation profiles. Methylation data and clinical information were correlated, and an integrated model was developed to predict progression-free survival. Patients with EPN-PFA, EPN-ZFTA, and EPN-MYCN tumors showed the worst outcome with 10-year overall survival rates of 56%, 62%, and 32%, respectively. EPN-PFA harbored chromosome 1q gains and/or 6q losses as markers for worse survival. In supratentorial EPN-ZFTA, a combined loss of CDKN2A and B indicated worse survival, whereas a single loss did not. Twelve out of 200 EPN-ZFTA (6%) were located in the posterior fossa, and these tumors relapsed or progressed even earlier than supratentorial tumors with a combined loss of CDKN2A/B. Patients with MPE and PF-SE, generally regarded as non-aggressive tumors, only had a 10-year progression-free survival of 59% and 65%, respectively. For the prediction of the 5-year progression-free survival, Kaplan-Meier estimators based on the molecular subtype, a Support Vector Machine based on methylation, and an integrated model based on clinical factors, CNV data, and predicted methylation scores achieved balanced accuracies of 66%, 68%, and 73%, respectively. Excluding samples with low prediction scores resulted in balanced accuracies of over 80%. In sum, our large-scale analysis of ependymomas provides robust information about molecular features and their clinical meaning. Our data are particularly relevant for rare and hardly explored tumor subtypes and seemingly benign variants that display higher recurrence rates than previously believed.
000287282 536__ $$0G:(DE-HGF)POF4-312$$a312 - Funktionelle und strukturelle Genomforschung (POF4-312)$$cPOF4-312$$fPOF IV$$x0
000287282 588__ $$aDataset connected to CrossRef, PubMed, , Journals: inrepo02.dkfz.de
000287282 650_7 $$2Other$$aDNA methylation
000287282 650_7 $$2Other$$aEpendymoma
000287282 650_7 $$2Other$$aMachine learning
000287282 650_7 $$2Other$$aMolecular types
000287282 650_7 $$2Other$$aSurvival
000287282 650_2 $$2MeSH$$aHumans
000287282 650_2 $$2MeSH$$aEpendymoma
000287282 650_2 $$2MeSH$$aProgression-Free Survival
000287282 650_2 $$2MeSH$$aProtein Processing, Post-Translational
000287282 7001_ $$aLeitheiser, Maximilian$$b1
000287282 7001_ $$aObrecht, Denise$$b2
000287282 7001_ $$0P:(DE-He78)db2e8cf0dd8fa826896839ffee4b1411$$aSchweizer, Leonille$$b3$$udkfz
000287282 7001_ $$aWefers, Annika K$$b4
000287282 7001_ $$aEckhardt, Alicia$$b5
000287282 7001_ $$aRaffeld, Mark$$b6
000287282 7001_ $$0P:(DE-He78)a46a5b2a871859c8e2d63d2f8c666807$$aSturm, Dominik$$b7$$udkfz
000287282 7001_ $$0P:(DE-He78)a7c1bbac024fa232d9c6b78443328d9d$$aPajtler, Kristian W$$b8$$udkfz
000287282 7001_ $$aRutkowski, Stefan$$b9
000287282 7001_ $$aFukuoka, Kohei$$b10
000287282 7001_ $$aIchimura, Koichi$$b11
000287282 7001_ $$aBockmayr, Michael$$b12
000287282 7001_ $$00000-0002-8731-1121$$aSchüller, Ulrich$$b13
000287282 773__ $$0PERI:(DE-600)1458410-4$$a10.1007/s00401-023-02674-x$$gVol. 147, no. 1, p. 24$$n1$$p24$$tActa neuropathologica$$v147$$x0001-6322$$y2024
000287282 8564_ $$uhttps://inrepo02.dkfz.de/record/287282/files/s00401-023-02674-x.pdf
000287282 8564_ $$uhttps://inrepo02.dkfz.de/record/287282/files/s00401-023-02674-x.pdf?subformat=pdfa$$xpdfa
000287282 909CO $$ooai:inrepo02.dkfz.de:287282$$pVDB
000287282 9101_ $$0I:(DE-588b)2036810-0$$6P:(DE-He78)db2e8cf0dd8fa826896839ffee4b1411$$aDeutsches Krebsforschungszentrum$$b3$$kDKFZ
000287282 9101_ $$0I:(DE-588b)2036810-0$$6P:(DE-He78)a46a5b2a871859c8e2d63d2f8c666807$$aDeutsches Krebsforschungszentrum$$b7$$kDKFZ
000287282 9101_ $$0I:(DE-588b)2036810-0$$6P:(DE-He78)a7c1bbac024fa232d9c6b78443328d9d$$aDeutsches Krebsforschungszentrum$$b8$$kDKFZ
000287282 9131_ $$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$$x0
000287282 9141_ $$y2024
000287282 915__ $$0StatID:(DE-HGF)3002$$2StatID$$aDEAL Springer$$d2023-10-21$$wger
000287282 915__ $$0StatID:(DE-HGF)3002$$2StatID$$aDEAL Springer$$d2023-10-21$$wger
000287282 915__ $$0StatID:(DE-HGF)0100$$2StatID$$aJCR$$bACTA NEUROPATHOL : 2022$$d2023-10-21
000287282 915__ $$0StatID:(DE-HGF)0200$$2StatID$$aDBCoverage$$bSCOPUS$$d2023-10-21
000287282 915__ $$0StatID:(DE-HGF)0300$$2StatID$$aDBCoverage$$bMedline$$d2023-10-21
000287282 915__ $$0StatID:(DE-HGF)0600$$2StatID$$aDBCoverage$$bEbsco Academic Search$$d2023-10-21
000287282 915__ $$0StatID:(DE-HGF)0030$$2StatID$$aPeer Review$$bASC$$d2023-10-21
000287282 915__ $$0StatID:(DE-HGF)0199$$2StatID$$aDBCoverage$$bClarivate Analytics Master Journal List$$d2023-10-21
000287282 915__ $$0StatID:(DE-HGF)1050$$2StatID$$aDBCoverage$$bBIOSIS Previews$$d2023-10-21
000287282 915__ $$0StatID:(DE-HGF)0113$$2StatID$$aWoS$$bScience Citation Index Expanded$$d2023-10-21
000287282 915__ $$0StatID:(DE-HGF)0150$$2StatID$$aDBCoverage$$bWeb of Science Core Collection$$d2023-10-21
000287282 915__ $$0StatID:(DE-HGF)1030$$2StatID$$aDBCoverage$$bCurrent Contents - Life Sciences$$d2023-10-21
000287282 915__ $$0StatID:(DE-HGF)1190$$2StatID$$aDBCoverage$$bBiological Abstracts$$d2023-10-21
000287282 915__ $$0StatID:(DE-HGF)0160$$2StatID$$aDBCoverage$$bEssential Science Indicators$$d2023-10-21
000287282 915__ $$0StatID:(DE-HGF)9910$$2StatID$$aIF >= 10$$bACTA NEUROPATHOL : 2022$$d2023-10-21
000287282 9201_ $$0I:(DE-He78)FM01-20160331$$kFM01$$lDKTK Koordinierungsstelle Frankfurt$$x0
000287282 9201_ $$0I:(DE-He78)B360-20160331$$kB360$$lPädiatische Gliomforschung$$x1
000287282 9201_ $$0I:(DE-He78)HD01-20160331$$kHD01$$lDKTK HD zentral$$x2
000287282 9201_ $$0I:(DE-He78)B062-20160331$$kB062$$lB062 Pädiatrische Neuroonkologie$$x3
000287282 980__ $$ajournal
000287282 980__ $$aVDB
000287282 980__ $$aI:(DE-He78)FM01-20160331
000287282 980__ $$aI:(DE-He78)B360-20160331
000287282 980__ $$aI:(DE-He78)HD01-20160331
000287282 980__ $$aI:(DE-He78)B062-20160331
000287282 980__ $$aUNRESTRICTED