Development of chromosome 1q+ specific treatment for highest risk pediatric posterior fossa ependymoma
CONCLUSIONS: These results are the first to identify a chromosome 1q+ specific therapy approach in 1q+ PFA. Existing phase 1 studies have already established single-agent pediatric safety and dosages of 5FU and ATRA, allowing for expedited clinical application as phase 2 trials for children with high-risk PFA.PMID:38334950 | DOI:10.1158/1078-0432.CCR-23-3156 (Source: Clinical Cancer Research)
Source: Clinical Cancer Research - February 9, 2024 Category: Cancer & Oncology Authors: Andrea M Griesinger Annaliese J Calzadilla Enrique Grimaldo Andrew M Donson Vladimir Amani Angela M Pierce Jenna Steiner Soudabeh Kargar Natalie J Serkova Kelsey C Bertrand Karen D Wright Rajeev Vibhakar Todd Hankinson Michael Handler Holly B Lindsay Nich Source Type: research

Patient-reported measures of tinnitus for individuals with neurofibromatosis type 2-related schwannomatosis: Recommendations for clinical trials
DISCUSSION: Response Evaluation in Neurofibromatosis and Schwannomatosis currently recommends the Tinnitus Functional Index for the assessment of tinnitus in neurofibromatosis type 2 clinical trials.PMID:38321701 | PMC:PMC10865763 | DOI:10.1177/17407745231217279 (Source: Clinical Trials)
Source: Clinical Trials - February 7, 2024 Category: Research Authors: Heather L Thompson Jane Grabowski Barbara Franklin Kimberley S Koetsier D Bradley Welling Source Type: research

Patient-reported measures of tinnitus for individuals with neurofibromatosis type 2-related schwannomatosis: Recommendations for clinical trials
DISCUSSION: Response Evaluation in Neurofibromatosis and Schwannomatosis currently recommends the Tinnitus Functional Index for the assessment of tinnitus in neurofibromatosis type 2 clinical trials.PMID:38321701 | PMC:PMC10865763 | DOI:10.1177/17407745231217279 (Source: Clinical Trials)
Source: Clinical Trials - February 7, 2024 Category: Research Authors: Heather L Thompson Jane Grabowski Barbara Franklin Kimberley S Koetsier D Bradley Welling Source Type: research

Patient-reported measures of tinnitus for individuals with neurofibromatosis type 2-related schwannomatosis: Recommendations for clinical trials
DISCUSSION: Response Evaluation in Neurofibromatosis and Schwannomatosis currently recommends the Tinnitus Functional Index for the assessment of tinnitus in neurofibromatosis type 2 clinical trials.PMID:38321701 | PMC:PMC10865763 | DOI:10.1177/17407745231217279 (Source: Clinical Trials)
Source: Clinical Trials - February 7, 2024 Category: Research Authors: Heather L Thompson Jane Grabowski Barbara Franklin Kimberley S Koetsier D Bradley Welling Source Type: research

GSE249189 High and low cell density areas in posterior fossa ependymoma type A have a distinct transcriptome
Contributors : Swenja G ödicke ; Ulrich SchüllerSeries Type : OtherOrganism : Homo sapiensPosterior fossa type A (PF-EPN-A, PFA) ependymoma are aggressive tumors that mainly affect children and have a poor prognosis. Histopathology shows significant intratumoral heterogeneity, ranging from loose tissue to often sharply demarcated, extremely cell dense tumor areas. Spatial transcriptomics of six cases allow for a comparison of the transcriptome of high and low cell density areas. (Source: GEO: Gene Expression Omnibus)
Source: GEO: Gene Expression Omnibus - January 31, 2024 Category: Genetics & Stem Cells Tags: Other Homo sapiens Source Type: research

GSE248811 Clinically relevant molecular hallmarks of PFA ependymomas display intratumoral heterogeneity and correlate with tumor morphology.
Series Type : Methylation profiling by array ; OtherOrganism : Homo sapiensThis SuperSeries is composed of the SubSeries listed below. (Source: GEO: Gene Expression Omnibus)
Source: GEO: Gene Expression Omnibus - January 31, 2024 Category: Genetics & Stem Cells Tags: Methylation profiling by array Other Homo sapiens Source Type: research

GSE248618 Clinically relevant molecular hallmarks of PFA ependymomas display intratumoral heterogeneity and correlate with tumor morphology
Contributors : Swenja G ödicke ; Ulrich SchüllerSeries Type : Methylation profiling by arrayOrganism : Homo sapiensPosterior fossa type A (PF-EPN-A, PFA) ependymoma are aggressive tumors that mainly affect children and have a poor prognosis. Histopathology shows significant intratumoral heterogeneity, ranging from loose tissue to often sharply demarcated, extremely cell dense tumor areas. To determine molecular differences between these morphologically different areas and to understand their clinical significance, we analyzed 113 PF-EPN-A samples, including 40 corresponding relapse samples. Inter alia, DNA methylation ...
Source: GEO: Gene Expression Omnibus - January 31, 2024 Category: Genetics & Stem Cells Tags: Methylation profiling by array Homo sapiens Source Type: research

GSE248617 PFA ependymoma primary and recurring tumors show differences in cellularity, DNA methylation and relevant copy number variations.
Contributors : Swenja G ödicke ; Ulrich SchüllerSeries Type : Methylation profiling by arrayOrganism : Homo sapiensPosterior fossa type A (PF-EPN-A, PFA) ependymoma are aggressive tumors that mainly affect children and have a poor prognosis. Histopathology shows significant intratumoral heterogeneity, ranging from loose tissue to often sharply demarcated, extremely cell dense tumor areas. To determine molecular differences in morphologically different areas and to understand their clinical significance, we analyzed 113 PF-EPN-A samples, including 40 corresponding relapse samples. Relapsing tumors displayed a higher pro...
Source: GEO: Gene Expression Omnibus - January 31, 2024 Category: Genetics & Stem Cells Tags: Methylation profiling by array Homo sapiens Source Type: research

GSE243240 Molecular characteristics and improved survival prediction in a cohort of 2,023 ependymomas
Contributors : Michael Bockmayr ; Lara PohlSeries Type : Methylation profiling by array ; Third-party reanalysisOrganism : Homo sapiensThe diagnosis of ependymoma has moved from a purely histopathological review with limited prognostic value to an integrated diagnosis, relying heavily on molecular profiling. We collected data from 2,023 ependymomas as classified by DNA methylation profiling, consisting of 1,734 previously published and 289 unpublished methylation profiles. Methylation data and clinical information were correlated, and a Support Vector Machine was trained to predict progression-free and overall survival. ...
Source: GEO: Gene Expression Omnibus - January 31, 2024 Category: Genetics & Stem Cells Tags: Methylation profiling by array Third-party reanalysis Homo sapiens Source Type: research

The effectiveness and safety of proton beam radiation therapy in children and young adults with Central Nervous System (CNS) tumours: a systematic review
ConclusionsThis review highlights areas of uncertainty in this research area. A well-defined, well-funded research agenda is needed to best maximise the potential of PBT.Systematic review registration.PROSPERO-CRD42016036802. (Source: Journal of Neuro-Oncology)
Source: Journal of Neuro-Oncology - January 31, 2024 Category: Cancer & Oncology Source Type: research

Molecular characteristics and improved survival prediction in a cohort of 2023 ependymomas
AbstractThe diagnosis of ependymoma has moved from a purely histopathological review with limited prognostic value to an integrated diagnosis, relying heavily on molecular information. However, as the integrated approach is still novel and some molecular ependymoma subtypes are quite rare, few studies have correlated integrated pathology and clinical outcome, often focusing on small series of single molecular types. We collected data from 2023 ependymomas as classified by DNA methylation profiling, consisting of 1736 previously published and 287 unpublished methylation profiles. Methylation data and clinical information we...
Source: Acta Neuropathologica - January 24, 2024 Category: Neurology Source Type: research

Clinically relevant molecular hallmarks of PFA ependymomas display intratumoral heterogeneity and correlate with tumor morphology
AbstractPosterior fossa type A (PF-EPN-A, PFA) ependymoma are aggressive tumors that mainly affect children and have a poor prognosis. Histopathology shows significant intratumoral heterogeneity, ranging from loose tissue to often sharply demarcated, extremely cell-dense tumor areas. To determine molecular differences in morphologically different areas and to understand their clinical significance, we analyzed 113 PF-EPN-A samples, including 40 corresponding relapse samples. Cell-dense areas ranged from 0 to 100% of the tumor area and displayed a higher proportion of proliferating tumor cells (p <  0.01). Clinically...
Source: Acta Neuropathologica - January 24, 2024 Category: Neurology Source Type: research

Transcriptomic and epigenetic dissection of spinal ependymoma (SP-EPN) identifies clinically relevant subtypes enriched for tumors with and without NF2 mutation
AbstractEpendymomas encompass multiple clinically relevant tumor types based on localization and molecular profiles. Tumors of the methylation class “spinal ependymoma” (SP-EPN) represent the most common intramedullary neoplasms in children and adults. However, their developmental origin is ill-defined, molecular data are scarce, and the potential heterogeneity within SP-EPN remains unexplored. The only known recurrent genetic events in SP-E PN are loss of chromosome 22q andNF2 mutations, but neither types and frequency of these alterations nor their clinical relevance have been described in a large, epigenetically def...
Source: Acta Neuropathologica - January 24, 2024 Category: Neurology Source Type: research

Molecular characteristics and improved survival prediction in a cohort of 2023 ependymomas
AbstractThe diagnosis of ependymoma has moved from a purely histopathological review with limited prognostic value to an integrated diagnosis, relying heavily on molecular information. However, as the integrated approach is still novel and some molecular ependymoma subtypes are quite rare, few studies have correlated integrated pathology and clinical outcome, often focusing on small series of single molecular types. We collected data from 2023 ependymomas as classified by DNA methylation profiling, consisting of 1736 previously published and 287 unpublished methylation profiles. Methylation data and clinical information we...
Source: Acta Neuropathologica - January 24, 2024 Category: Neurology Source Type: research

Anomalous branching of the middle meningeal artery from the basilar artery: a systematic review
ConclusionTo avoid unexpected complications during neurosurgical and neuroradiointerventional procedures, it is essential to have a clear understanding of the anomalous routes of the MMA. This is especially important when it proves to be the only available route for embolization. (Source: Frontiers in Neurology)
Source: Frontiers in Neurology - January 23, 2024 Category: Neurology Source Type: research