Matches in SemOpenAlex for { <https://semopenalex.org/work/W4281759061> ?p ?o ?g. }
- W4281759061 endingPage "i156" @default.
- W4281759061 startingPage "i156" @default.
- W4281759061 abstract "Abstract Pediatric central nervous system (CNS) tumors differ substantially from their adult counterparts, are marked by considerable molecular and clinical heterogeneity, and diagnosis through histopathology alone can be challenging. Using DNA methylation-based CNS tumor classification in combination with copy number and RNAseq analysis, we identify a rare, novel pediatric CNS tumor type (n=32) which is characterized by focal high-level amplification and consecutive overexpression of one of the PLAG family genes – PLAGL1 or PLAGL2. It is epigenetically divergent from other known tumor types such as high-grade gliomas, medulloblastomas, embryonal tumors, or CNS sarcomas. The wide range of original histopathologic diagnosis rendered attests to their polyphenotypic nature in terms of morphology. We suggest that these tumors may arise from early to intermediate neural progenitor cells with some neuronal commitment. Using ChIPseq data, we show that both PLAGL1 and PLAGL2 act as transcription factors for: i) the oncogenic kinase RET, a potential drug target, that was overexpressed in our cohort; ii) components of the Wnt/β-Catenin pathway; iii) a set of imprinted genes, reported to regulate the imprinted gene network in mouse models, that was deregulated in the PLAGL-amplified tumors. Consequently, a 250-gene expression PLAGL-signature indicated dysregulation of imprinting control and differentiation/development as a prominent feature. We report differences regarding age and sex distribution between PLAGL1- and PLAGL2-amplified tumors and shed light on differences in clinical behavior and outcomes between these subtypes in male and female patients. PLAGL1-amplified tumors were more prevalent in school-age children and teenagers, while PLAGL2-amplified cases occurred in very young patients. Kaplan-Meier analysis showed a trend towards a more favorable outcome in patients with PLAGL1-amplified tumors and in female patients. Survival rates remained constant after 5 years with a five-/ten-year overall survival of 75% for PLAGL1, 24% for PLAGL2, 18% for male patients, and 88% for female patients." @default.
- W4281759061 created "2022-06-13" @default.
- W4281759061 creator A5004707747 @default.
- W4281759061 creator A5007760993 @default.
- W4281759061 creator A5007938895 @default.
- W4281759061 creator A5010494637 @default.
- W4281759061 creator A5015267609 @default.
- W4281759061 creator A5017575332 @default.
- W4281759061 creator A5027427939 @default.
- W4281759061 creator A5031338272 @default.
- W4281759061 creator A5032455600 @default.
- W4281759061 creator A5035803782 @default.
- W4281759061 creator A5038035447 @default.
- W4281759061 creator A5038974602 @default.
- W4281759061 creator A5041096535 @default.
- W4281759061 creator A5043812430 @default.
- W4281759061 creator A5049310769 @default.
- W4281759061 creator A5052983963 @default.
- W4281759061 creator A5064456190 @default.
- W4281759061 creator A5066934299 @default.
- W4281759061 creator A5070917396 @default.
- W4281759061 creator A5073962695 @default.
- W4281759061 creator A5076569626 @default.
- W4281759061 creator A5078373933 @default.
- W4281759061 creator A5080723968 @default.
- W4281759061 date "2022-06-01" @default.
- W4281759061 modified "2023-10-12" @default.
- W4281759061 title "OTHR-41. Amplification of the PLAG family genes – PLAGL1 and PLAGL2 – is a key feature of a novel embryonal CNS tumor type" @default.
- W4281759061 doi "https://doi.org/10.1093/neuonc/noac079.579" @default.
- W4281759061 hasPublicationYear "2022" @default.
- W4281759061 type Work @default.
- W4281759061 citedByCount "1" @default.
- W4281759061 countsByYear W42817590612023 @default.
- W4281759061 crossrefType "journal-article" @default.
- W4281759061 hasAuthorship W4281759061A5004707747 @default.
- W4281759061 hasAuthorship W4281759061A5007760993 @default.
- W4281759061 hasAuthorship W4281759061A5007938895 @default.
- W4281759061 hasAuthorship W4281759061A5010494637 @default.
- W4281759061 hasAuthorship W4281759061A5015267609 @default.
- W4281759061 hasAuthorship W4281759061A5017575332 @default.
- W4281759061 hasAuthorship W4281759061A5027427939 @default.
- W4281759061 hasAuthorship W4281759061A5031338272 @default.
- W4281759061 hasAuthorship W4281759061A5032455600 @default.
- W4281759061 hasAuthorship W4281759061A5035803782 @default.
- W4281759061 hasAuthorship W4281759061A5038035447 @default.
- W4281759061 hasAuthorship W4281759061A5038974602 @default.
- W4281759061 hasAuthorship W4281759061A5041096535 @default.
- W4281759061 hasAuthorship W4281759061A5043812430 @default.
- W4281759061 hasAuthorship W4281759061A5049310769 @default.
- W4281759061 hasAuthorship W4281759061A5052983963 @default.
- W4281759061 hasAuthorship W4281759061A5064456190 @default.
- W4281759061 hasAuthorship W4281759061A5066934299 @default.
- W4281759061 hasAuthorship W4281759061A5070917396 @default.
- W4281759061 hasAuthorship W4281759061A5073962695 @default.
- W4281759061 hasAuthorship W4281759061A5076569626 @default.
- W4281759061 hasAuthorship W4281759061A5078373933 @default.
- W4281759061 hasAuthorship W4281759061A5080723968 @default.
- W4281759061 hasBestOaLocation W42817590611 @default.
- W4281759061 hasConcept C104317684 @default.
- W4281759061 hasConcept C121608353 @default.
- W4281759061 hasConcept C137620995 @default.
- W4281759061 hasConcept C150194340 @default.
- W4281759061 hasConcept C190727270 @default.
- W4281759061 hasConcept C201492766 @default.
- W4281759061 hasConcept C2993561819 @default.
- W4281759061 hasConcept C41091548 @default.
- W4281759061 hasConcept C502942594 @default.
- W4281759061 hasConcept C54355233 @default.
- W4281759061 hasConcept C86803240 @default.
- W4281759061 hasConceptScore W4281759061C104317684 @default.
- W4281759061 hasConceptScore W4281759061C121608353 @default.
- W4281759061 hasConceptScore W4281759061C137620995 @default.
- W4281759061 hasConceptScore W4281759061C150194340 @default.
- W4281759061 hasConceptScore W4281759061C190727270 @default.
- W4281759061 hasConceptScore W4281759061C201492766 @default.
- W4281759061 hasConceptScore W4281759061C2993561819 @default.
- W4281759061 hasConceptScore W4281759061C41091548 @default.
- W4281759061 hasConceptScore W4281759061C502942594 @default.
- W4281759061 hasConceptScore W4281759061C54355233 @default.
- W4281759061 hasConceptScore W4281759061C86803240 @default.
- W4281759061 hasIssue "Supplement_1" @default.
- W4281759061 hasLocation W42817590611 @default.
- W4281759061 hasLocation W42817590612 @default.
- W4281759061 hasOpenAccess W4281759061 @default.
- W4281759061 hasPrimaryLocation W42817590611 @default.
- W4281759061 hasRelatedWork W2040888635 @default.
- W4281759061 hasRelatedWork W2074271561 @default.
- W4281759061 hasRelatedWork W2085749679 @default.
- W4281759061 hasRelatedWork W2113849341 @default.
- W4281759061 hasRelatedWork W2157023645 @default.
- W4281759061 hasRelatedWork W3112447202 @default.
- W4281759061 hasRelatedWork W3120927876 @default.
- W4281759061 hasRelatedWork W3185141762 @default.
- W4281759061 hasRelatedWork W4229065082 @default.
- W4281759061 hasRelatedWork W4310701073 @default.
- W4281759061 hasVolume "24" @default.
- W4281759061 isParatext "false" @default.
- W4281759061 isRetracted "false" @default.