DKFZ 16 records found  1 - 10next  jump to record: Search took 0.00 seconds. 
[DKFZ-2023-00352] Journal Article (Erratum/Correction)
; ; ; et al
Correction to: Amplification of the PLAG-family genes-PLAGL1 and PLAGL2-is a key feature of the novel tumor type CNS embryonal tumor with PLAGL amplification.
In the original publication, incorrect version of Fig. 6 was published and the correct version (Fig. [...]
[DKFZ-2022-02934] Journal Article
; ; ; et al
Amplification of the PLAG-family genes-PLAGL1 and PLAGL2-is a key feature of the novel tumor type CNS embryonal tumor with PLAGL amplification.
Pediatric central nervous system (CNS) tumors represent the most common cause of cancer-related death in children aged 0-14 years. They differ from their adult counterparts, showing extensive clinical and molecular heterogeneity as well as a challenging histopathological spectrum that often impairs accurate diagnosis. [...]
DBCoverage [DKFZ-2022-02190] Journal Article
; ; ; et al
Conserved features of TERT promoter duplications reveal an activation mechanism that mimics hotspot mutations in cancer
Mutations in the TERT promoter represent the genetic underpinnings of tumor cell immortality. Beyond the two most common point mutations, which selectively recruit the ETS factor GABP to activate TERT, the significance of other variants is unknown. [...]
[DKFZ-2022-01641] Journal Article (Review Article)
; ; ; et al
Eano-Euracan-Sno Guidelines on Circumscribed Astrocytic GLIOMAS, Glioneuronal and Neuronaltumors
Neuro-Oncology 24(12), 2015-2034 () [10.1093/neuonc/noac188]  GO
In the new WHO 2021 Classification of CNS Tumors the chapter “Circumscribed astrocytic gliomas, glioneuronal and neuronal tumors” encompasses several different rare tumor entities, which occur more frequently in children, adolescents and young adults. The Task Force has reviewed the evidence of diagnostic and therapeutic interventions, which is low particularly for adult patients, and draw recommendations accordingly. [...]
DBCoverage [DKFZ-2021-02676] Journal Article
; ; ; et al
Intracranial mesenchymal tumors with FET-CREB fusion are composed of at least two epigenetic subgroups distinct from meningioma and extracranial sarcomas.
Brain pathology 32(4), e13037 () [10.1111/bpa.13037]  GO
'Intracranial mesenchymal tumor, FET-CREB fusion-positive' occurs primarily in children and young adults and has previously been termed intracranial angiomatoid fibrous histiocytoma (AFH) or intracranial myxoid mesenchymal tumor (IMMT). Here we performed genome-wide DNA methylation array profiling of 20 primary intracranial mesenchymal tumors with FET-CREB fusion to further study their ontology. [...]
[DKFZ-2021-02291] Journal Article
; ; ; et al
Genetic and epigenetic characterization of posterior pituitary tumors.
Pituicytoma (PITUI), granular cell tumor (GCT), and spindle cell oncocytoma (SCO) are rare tumors of the posterior pituitary. Histologically, they may be challenging to distinguish and have been proposed to represent a histological spectrum of a single entity. [...]
[DKFZ-2021-01262] Journal Article
; ; ; et al
Molecular characterisation of sporadic endolymphatic sac tumours and comparison to von Hippel-Lindau disease-related tumours.
Although inactivation of the von Hippel-Lindau gene (VHL) on chromosome 3p25 is considered to be the major cause of hereditary endolymphatic sac tumours (ELSTs), the genetic background of sporadic ELST is largely unknown. The aim of this study was to determine the prevalence of VHL mutations in sporadic ELSTs and compare their characteristics to VHL-disease-related tumours.Genetic and epigenetic alterations were compared between 11 sporadic and 11 VHL-disease-related ELSTs by targeted sequencing and DNA methylation analysis.VHL mutations and small deletions detected by targeted deep sequencing were identified in 9/11 sporadic ELSTs (82%). [...]
[DKFZ-2020-02381] Journal Article
; ; ; et al
A subset of pediatric-type thalamic gliomas share a distinct DNA methylation profile, H3K27me3 loss and frequent alteration of EGFR.
Neuro-Oncology 23(1), 34-43 () [10.1093/neuonc/noaa251]  GO
Malignant astrocytic gliomas in children show a remarkable biological and clinical diversity. Small in-frame insertions or missense mutations in the EGFR gene have recently been identified in a distinct subset of pediatric-type bithalamic gliomas with a unique DNA methylation pattern.Here, we investigated an epigenetically homogeneous cohort of malignant gliomas (n=58) distinct from other subtypes and enriched for pediatric cases and thalamic location, in comparison with this recently identified subtype of pediatric bithalamic gliomas.EGFR gene amplification was detected in 16/58 (27%) tumors, and missense mutations or small in-frame insertions in EGFR were found in 20/30 tumors with available sequencing data (67%; five of them co-occurring with EGFR amplification). [...]
[DKFZ-2020-00855] Journal Article
; ; ; et al
cIMPACT-NOW update 6: new entity and diagnostic principle recommendations of the cIMPACT-Utrecht meeting on future CNS tumor classification and grading.
Brain pathology 30(4), 844-856 () [10.1111/bpa.12832]  GO
cIMPACT-NOW (the Consortium to Inform Molecular and Practical Approaches to CNS Tumor Taxonomy) was established to evaluate and make practical recommendations on recent advances in the field of CNS tumor classification, particularly in light of the rapid progress in molecular insights into these neoplasms. For Round 2 of its deliberations, cIMPACT-NOW Working Committee 3 was reconstituted and convened in Utrecht, The Netherlands, for a meeting designed to review putative new CNS tumor types in advance of any future World Health Organization meeting on CNS tumor classification. [...]
[DKFZ-2020-00726] Journal Article
; ; ; et al
Infant high grade gliomas comprise multiple subgroups characterized by novel targetable gene fusions and favorable outcomes.
Infant high grade gliomas appear clinically distinct from their counterparts in older children, indicating that histopathologic grading may not accurately reflect the biology of these tumors. We have collected 241 cases under 4 years of age, and carried out histological review, methylation profiling, custom panel and genome/exome sequencing. [...]

DKFZ : 16 records found   1 - 10next  jump to record:
Interested in being notified about new results for this query?
Set up a personal email alert or subscribe to the RSS feed.