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000306599 1001_ $$aGoschzik, Tobias$$b0
000306599 245__ $$aRecurrent genetic alterations in epigenetically defined pineoblastoma subtypes.
000306599 260__ $$aLondon$$bBiomed Central$$c2025
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000306599 520__ $$aPrevious studies have revealed four distinct epigenetic consensus pineoblastoma (PB) subtypes. The aim of this study was to confirm and further extend their respective genetic underpinnings. Cytogenetics of 83 PB were analyzed by high-resolution genome-wide molecular inversion probe analysis and methylation profiling. Seventy-nine cases were screened for mutations by next-generation DNA panel sequencing and for 25 samples mRNA expression was analyzed using NanoString. Additionally, 24 further pineal parenchymal tumors were analyzed. Clinical data of 63 patients was available. Our cohort consisted of 48 PB-miRNA1, 19 PB-miRNA2, 8 PB-MYC/FOXR2, and 8 PB-RB1 cases. PB-miRNA subtype tumors had characteristic alterations in microRNA-processing genes; DICER1 mutations (n = 19/64) and homozygous deletions of the DROSHA locus (n = 18/67) were most abundant, followed by DROSHA mutations (n = 12/64). Most frequent cytogenetic aberrations in PB-miRNA cases were chromosome 7 gains (n = 31/67) and chromosome 14 losses (n = 26/67, including 5 cases with copy-neutral LOH). The latter were significantly associated with DICER1 mutations (p < 0.001). OTX2 gain represented the most frequent alteration that occurred in 37/83 PB of all subtypes. In the PB-miRNA subtypes we identified cases with polyploid cytogenetics (n = 16/67). In contrast to previous publications, we did not find a difference in survival for the PB-miRNA subtypes, whereas PB-MYC/FOXR2 and PB-RB1 in infants showed a worse outcome. Epigenetically defined PB subtypes are characterized by distinct genetic events. Frequent gains of the oncogene OTX2 indicate a role in the pathogenesis of PB independent of its subtype.
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000306599 650_7 $$2Other$$aDICER1
000306599 650_7 $$2Other$$aDROSHA
000306599 650_7 $$2Other$$aEpigenetic subtypes
000306599 650_7 $$2Other$$aPPTID
000306599 650_7 $$2Other$$aPineoblastoma
000306599 650_7 $$0EC 3.1.26.3$$2NLM Chemicals$$aRibonuclease III
000306599 650_7 $$2NLM Chemicals$$aMicroRNAs
000306599 650_7 $$0EC 3.1.26.3$$2NLM Chemicals$$aDICER1 protein, human
000306599 650_7 $$0EC 3.6.4.13$$2NLM Chemicals$$aDEAD-box RNA Helicases
000306599 650_7 $$2NLM Chemicals$$aOtx Transcription Factors
000306599 650_2 $$2MeSH$$aHumans
000306599 650_2 $$2MeSH$$aPinealoma: genetics
000306599 650_2 $$2MeSH$$aPinealoma: classification
000306599 650_2 $$2MeSH$$aPinealoma: pathology
000306599 650_2 $$2MeSH$$aFemale
000306599 650_2 $$2MeSH$$aMale
000306599 650_2 $$2MeSH$$aBrain Neoplasms: genetics
000306599 650_2 $$2MeSH$$aBrain Neoplasms: classification
000306599 650_2 $$2MeSH$$aBrain Neoplasms: pathology
000306599 650_2 $$2MeSH$$aChild
000306599 650_2 $$2MeSH$$aChild, Preschool
000306599 650_2 $$2MeSH$$aPineal Gland: pathology
000306599 650_2 $$2MeSH$$aAdult
000306599 650_2 $$2MeSH$$aRibonuclease III: genetics
000306599 650_2 $$2MeSH$$aAdolescent
000306599 650_2 $$2MeSH$$aEpigenesis, Genetic: genetics
000306599 650_2 $$2MeSH$$aMicroRNAs: genetics
000306599 650_2 $$2MeSH$$aMutation: genetics
000306599 650_2 $$2MeSH$$aYoung Adult
000306599 650_2 $$2MeSH$$aMiddle Aged
000306599 650_2 $$2MeSH$$aInfant
000306599 650_2 $$2MeSH$$aDEAD-box RNA Helicases: genetics
000306599 650_2 $$2MeSH$$aDNA Methylation
000306599 650_2 $$2MeSH$$aOtx Transcription Factors: genetics
000306599 7001_ $$aYuan, Mathias$$b1
000306599 7001_ $$0P:(DE-He78)c0538fae462bd98e3cd8d54ed885b0eb$$aPfaff, Elke$$b2$$udkfz
000306599 7001_ $$aMüller, Manuel E B$$b3
000306599 7001_ $$aMynarek, Martin$$b4
000306599 7001_ $$aDörner, Evelyn$$b5
000306599 7001_ $$0P:(DE-He78)551bb92841f634070997aa168d818492$$aJones, David T W$$b6$$udkfz
000306599 7001_ $$0P:(DE-He78)f746aa965c4e1af518b016de3aaff5d9$$aPfister, Stefan M$$b7$$udkfz
000306599 7001_ $$aRutkowski, Stefan$$b8
000306599 7001_ $$aPietsch, Torsten$$b9
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