000120134 001__ 120134 000120134 005__ 20240228135013.0 000120134 0247_ $$2doi$$a10.1007/s00401-014-1276-0 000120134 0247_ $$2pmid$$apmid:24791927 000120134 0247_ $$2pmc$$apmc:PMC4059991 000120134 0247_ $$2ISSN$$a0001-6322 000120134 0247_ $$2ISSN$$a1432-0533 000120134 037__ $$aDKFZ-2017-00717 000120134 041__ $$aeng 000120134 082__ $$a610 000120134 1001_ $$aPietsch, Torsten$$b0 000120134 245__ $$aPrognostic significance of clinical, histopathological, and molecular characteristics of medulloblastomas in the prospective HIT2000 multicenter clinical trial cohort. 000120134 260__ $$aBerlin$$bSpringer$$c2014 000120134 3367_ $$2DRIVER$$aarticle 000120134 3367_ $$2DataCite$$aOutput Types/Journal article 000120134 3367_ $$0PUB:(DE-HGF)16$$2PUB:(DE-HGF)$$aJournal Article$$bjournal$$mjournal$$s1490879993_7656 000120134 3367_ $$2BibTeX$$aARTICLE 000120134 3367_ $$2ORCID$$aJOURNAL_ARTICLE 000120134 3367_ $$00$$2EndNote$$aJournal Article 000120134 520__ $$aThis study aimed to prospectively evaluate clinical, histopathological and molecular variables for outcome prediction in medulloblastoma patients. Patients from the HIT2000 cooperative clinical trial were prospectively enrolled based on the availability of sufficient tumor material and complete clinical information. This revealed a cohort of 184 patients (median age 7.6 years), which was randomly split at a 2:1 ratio into a training (n = 127), and a test (n = 57) dataset in order to build and test a risk score for this population. Independent validation was performed in a non-overlapping cohort (n = 83). All samples were subjected to thorough histopathological investigation, CTNNB1 mutation analysis, quantitative PCR, MLPA and FISH analyses for cytogenetic variables, and methylome analysis. By univariable analysis, clinical factors (M-stage), histopathological variables (large cell component, endothelial proliferation, synaptophysin pattern), and molecular features (chromosome 6q status, MYC amplification, subgrouping) were found to be prognostic. Molecular consensus subgrouping (WNT, SHH, Group 3, Group 4) was validated as an independent feature to stratify patients into different risk groups. When comparing methods for the identification of WNT-driven medulloblastoma, this study identified CTNNB1 sequencing and methylation profiling to most reliably identify these patients. After removing patients with particularly favorable (CTNNB1 mutation, extensive nodularity) or unfavorable (MYC amplification) markers, a risk score for the remaining 'intermediate molecular risk' population dependent on age, M-stage, pattern of synaptophysin expression, and MYCN copy-number status was identified, with speckled synaptophysin expression indicating worse outcome. Test and independent validation of the score confirmed significant discrimination of patients by risk profile. Methylation subgrouping and CTNNB1 mutation status represent robust tools for the risk stratification of medulloblastoma. A simple clinico-pathological risk score was identified, which was confirmed in a test set and by independent clinical validation. 000120134 536__ $$0G:(DE-HGF)POF3-312$$a312 - Functional and structural genomics (POF3-312)$$cPOF3-312$$fPOF III$$x0 000120134 588__ $$aDataset connected to CrossRef, PubMed, 000120134 650_7 $$2NLM Chemicals$$aBiomarkers 000120134 650_7 $$2NLM Chemicals$$aCTNNB1 protein, human 000120134 650_7 $$2NLM Chemicals$$aMYCN protein, human 000120134 650_7 $$2NLM Chemicals$$aN-Myc Proto-Oncogene Protein 000120134 650_7 $$2NLM Chemicals$$aNuclear Proteins 000120134 650_7 $$2NLM Chemicals$$aOncogene Proteins 000120134 650_7 $$2NLM Chemicals$$aSYP protein, human 000120134 650_7 $$2NLM Chemicals$$aSynaptophysin 000120134 650_7 $$2NLM Chemicals$$abeta Catenin 000120134 7001_ $$aSchmidt, Rene$$b1 000120134 7001_ $$0P:(DE-HGF)0$$aRemke, Marc$$b2 000120134 7001_ $$0P:(DE-He78)8d9c904a6cea14d4c99c78ba46e41f93$$aKorshunov, Andrey$$b3 000120134 7001_ $$0P:(DE-He78)744146d3b5a3df1e0ac555e5bf1ee5cc$$aHovestadt, Volker$$b4 000120134 7001_ $$0P:(DE-He78)551bb92841f634070997aa168d818492$$aJones, David$$b5 000120134 7001_ $$0P:(DE-HGF)0$$aFelsberg, Jörg$$b6 000120134 7001_ $$0P:(DE-He78)25e258723e7e1ad2ff808b9274d3c479$$aKaulich, Kerstin$$b7 000120134 7001_ $$aGoschzik, Tobias$$b8 000120134 7001_ $$0P:(DE-He78)4c28e2aade5f44d8eca9dd8e97638ec8$$aKool, Marcel$$b9 000120134 7001_ $$0P:(DE-HGF)0$$aNorthcott, Paul A$$b10 000120134 7001_ $$avon Hoff, Katja$$b11 000120134 7001_ $$avon Bueren, André O$$b12 000120134 7001_ $$aFriedrich, Carsten$$b13 000120134 7001_ $$aMynarek, Martin$$b14 000120134 7001_ $$aSkladny, Heyko$$b15 000120134 7001_ $$aFleischhack, Gudrun$$b16 000120134 7001_ $$aTaylor, Michael D$$b17 000120134 7001_ $$aCremer, Friedrich$$b18 000120134 7001_ $$0P:(DE-He78)e13b4363c5fe858044ef8a39c02c870c$$aLichter, Peter$$b19 000120134 7001_ $$aFaldum, Andreas$$b20 000120134 7001_ $$0P:(DE-HGF)0$$aReifenberger, Guido$$b21 000120134 7001_ $$aRutkowski, Stefan$$b22 000120134 7001_ $$0P:(DE-He78)f746aa965c4e1af518b016de3aaff5d9$$aPfister, Stefan$$b23$$eLast author 000120134 773__ $$0PERI:(DE-600)1458410-4$$a10.1007/s00401-014-1276-0$$gVol. 128, no. 1, p. 137 - 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