000136672 001__ 136672 000136672 005__ 20240229105053.0 000136672 0247_ $$2doi$$a10.1007/s00401-018-1888-x 000136672 0247_ $$2pmid$$apmid:30019219 000136672 0247_ $$2ISSN$$a0001-6322 000136672 0247_ $$2ISSN$$a1432-0533 000136672 0247_ $$2altmetric$$aaltmetric:45149186 000136672 037__ $$aDKFZ-2018-01140 000136672 041__ $$aeng 000136672 082__ $$a610 000136672 1001_ $$aCavalli, Florence M G$$b0 000136672 245__ $$aHeterogeneity within the PF-EPN-B ependymoma subgroup. 000136672 260__ $$aBerlin$$bSpringer$$c2018 000136672 3367_ $$2DRIVER$$aarticle 000136672 3367_ $$2DataCite$$aOutput Types/Journal article 000136672 3367_ $$0PUB:(DE-HGF)16$$2PUB:(DE-HGF)$$aJournal Article$$bjournal$$mjournal$$s1680521273_22927 000136672 3367_ $$2BibTeX$$aARTICLE 000136672 3367_ $$2ORCID$$aJOURNAL_ARTICLE 000136672 3367_ $$00$$2EndNote$$aJournal Article 000136672 520__ $$aPosterior fossa ependymoma comprise three distinct molecular variants, termed PF-EPN-A (PFA), PF-EPN-B (PFB), and PF-EPN-SE (subependymoma). Clinically, they are very disparate and PFB tumors are currently being considered for a trial of radiation avoidance. However, to move forward, unraveling the heterogeneity within PFB would be highly desirable. To discern the molecular heterogeneity within PFB, we performed an integrated analysis consisting of DNA methylation profiling, copy-number profiling, gene expression profiling, and clinical correlation across a cohort of 212 primary posterior fossa PFB tumors. Unsupervised spectral clustering and t-SNE analysis of genome-wide methylation data revealed five distinct subtypes of PFB tumors, termed PFB1-5, with distinct demographics, copy-number alterations, and gene expression profiles. All PFB subtypes were distinct from PFA and posterior fossa subependymomas. Of the five subtypes, PFB4 and PFB5 are more discrete, consisting of younger and older patients, respectively, with a strong female-gender enrichment in PFB5 (age: p = 0.011, gender: p = 0.04). Broad copy-number aberrations were common; however, many events such as chromosome 2 loss, 5 gain, and 17 loss were enriched in specific subtypes and 1q gain was enriched in PFB1. Late relapses were common across all five subtypes, but deaths were uncommon and present in only two subtypes (PFB1 and PFB3). Unlike the case in PFA ependymoma, 1q gain was not a robust marker of poor progression-free survival; however, chromosome 13q loss may represent a novel marker for risk stratification across the spectrum of PFB subtypes. Similar to PFA ependymoma, there exists a significant intertumoral heterogeneity within PFB, with distinct molecular subtypes identified. Even when accounting for this heterogeneity, extent of resection remains the strongest predictor of poor outcome. However, this biological heterogeneity must be accounted for in future preclinical modeling and personalized therapies. 000136672 536__ $$0G:(DE-HGF)POF3-312$$a312 - Functional and structural genomics (POF3-312)$$cPOF3-312$$fPOF III$$x0 000136672 588__ $$aDataset connected to CrossRef, PubMed, 000136672 7001_ $$0P:(DE-He78)a8c698e0904394407c5261932915daa5$$aHübner, Jens-Martin$$b1$$eFirst author 000136672 7001_ $$0P:(DE-He78)36e1ec4777d5b7887344177dca41eae9$$aSharma, Tanvi$$b2$$eFirst author 000136672 7001_ $$aLuu, Betty$$b3 000136672 7001_ $$0P:(DE-He78)45440b44791309bd4b7dbb4f73333f9b$$aSill, Martin$$b4 000136672 7001_ $$aZapotocky, Michal$$b5 000136672 7001_ $$aMack, Stephen C$$b6 000136672 7001_ $$0P:(DE-He78)046fd145f1008f83f6236580727bbc0f$$aWitt, Hendrik$$b7 000136672 7001_ $$aLin, Tong$$b8 000136672 7001_ $$aShih, David J H$$b9 000136672 7001_ $$aHo, Ben$$b10 000136672 7001_ $$aSanti, Mariarita$$b11 000136672 7001_ $$aEmery, Lyndsey$$b12 000136672 7001_ $$aHukin, Juliette$$b13 000136672 7001_ $$aDunham, Christopher$$b14 000136672 7001_ $$aMcLendon, Roger E$$b15 000136672 7001_ $$aLipp, Eric S$$b16 000136672 7001_ $$aGururangan, Sridharan$$b17 000136672 7001_ $$aGrossbach, Andrew$$b18 000136672 7001_ $$aFrench, Pim$$b19 000136672 7001_ $$aKros, Johan M$$b20 000136672 7001_ $$avan Veelen, Marie-Lise C$$b21 000136672 7001_ $$aRao, Amulya A Nageswara$$b22 000136672 7001_ $$aGiannini, Caterina$$b23 000136672 7001_ $$aLeary, Sarah$$b24 000136672 7001_ $$aJung, Shin$$b25 000136672 7001_ $$aFaria, Claudia C$$b26 000136672 7001_ $$aMora, Jaume$$b27 000136672 7001_ $$aSchüller, Ulrich$$b28 000136672 7001_ $$aAlonso, Marta M$$b29 000136672 7001_ $$aChan, Jennifer A$$b30 000136672 7001_ $$aKlekner, Almos$$b31 000136672 7001_ $$aChambless, Lola B$$b32 000136672 7001_ $$aHwang, Eugene I$$b33 000136672 7001_ $$aMassimino, Maura$$b34 000136672 7001_ $$aEberhart, Charles G$$b35 000136672 7001_ $$aKarajannis, Matthias A$$b36 000136672 7001_ $$aLu, Benjamin$$b37 000136672 7001_ $$aLiau, Linda M$$b38 000136672 7001_ $$aZollo, Massimo$$b39 000136672 7001_ $$aFerrucci, Veronica$$b40 000136672 7001_ $$aCarlotti, Carlos$$b41 000136672 7001_ $$aTirapelli, Daniela P C$$b42 000136672 7001_ $$aTabori, Uri$$b43 000136672 7001_ $$aBouffet, Eric$$b44 000136672 7001_ $$aRyzhova, Marina$$b45 000136672 7001_ $$aEllison, David W$$b46 000136672 7001_ $$aMerchant, Thomas E$$b47 000136672 7001_ $$aGilbert, Mark R$$b48 000136672 7001_ $$aArmstrong, Terri S$$b49 000136672 7001_ $$0P:(DE-He78)8d9c904a6cea14d4c99c78ba46e41f93$$aKorshunov, Andrey$$b50 000136672 7001_ $$0P:(DE-He78)f746aa965c4e1af518b016de3aaff5d9$$aPfister, Stefan$$b51 000136672 7001_ $$aTaylor, Michael D$$b52 000136672 7001_ $$aAldape, Kenneth$$b53 000136672 7001_ $$0P:(DE-He78)a7c1bbac024fa232d9c6b78443328d9d$$aPajtler, Kristian$$b54 000136672 7001_ $$0P:(DE-He78)4c28e2aade5f44d8eca9dd8e97638ec8$$aKool, Marcel$$b55$$eLast author 000136672 7001_ $$00000-0002-6557-895X$$aRamaswamy, Vijay$$b56 000136672 773__ $$0PERI:(DE-600)1458410-4$$a10.1007/s00401-018-1888-x$$gVol. 136, no. 2, p. 227 - 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