Mass spectrometry-based proteomics of cerebrospinal fluid in pediatric central nervous system malignancies: a systematic review with meta-analysis of individual patient data
ConclusionInfrequent publications on rare pediatric cancer entities, which often involve small sample sizes, are inherently prone to result in heterogeneous studies —particularly when conducted within a rapidly evolving field like proteomics. As a result, obtaining clear evidence, such as CSF proteome biomarkers for CNS dissemination or early-stage neurotoxicity, is currently impractical. Our general recommendations comprise the need for standardized methodol ogies, collaborative efforts, and improved data sharing in pediatric CNS malignancy research. We specifically emphasize the possible importance of considering natur...
Source: Fluids and Barriers of the CNS - February 13, 2024 Category: Neuroscience Source Type: research

Extra-axial desmoplastic/nodular medulloblastoma in adult mimicking cerebellar metastasis: reappraisal of this rare presentation with literature review
CONCLUSION: Although considered a common paediatric intra-axial tumour, there are increasing numbers of solitary cases reporting an extra-axial presentation in different locations of the posterior cerebral fossa even in adulthood. These rare and unusual presentations and locations may mislead the correct diagnosis and delay treatment.PMID:38333306 | PMC:PMC10849342 | DOI:10.1097/MS9.0000000000001617 (Source: Annals of Medicine)
Source: Annals of Medicine - February 9, 2024 Category: Internal Medicine Authors: Mehdi Borni Souhir Abdelmouleh Marouen Tallah Hela Blibeche Emna Elouni Mohamed Zaher Boudawara Source Type: research

GSE224974 Thyroid Hormones Promotes Terminal Differentiation of Medulloblastoma Tumor Cells
Contributors : Zeng-jie Yang ; Yijun Yang ; Shengyou LiaoSeries Type : Expression profiling by high throughput sequencingOrganism : Mus musculusHypothyroidism is commonly detected in patients with medulloblastoma (MB), a pediatric brain tumor, which is generally considered as a treatment-related complication. Although reduced levels of thyroid hormone (TH) significantly correlate with poor survival of patients with MB, the possible link between TH signaling and MB pathogenicity is unknown. Here, we found that TH regulating terminal differentiation of tumor cells. Reduction in the levels of TH frees the unliganded TH rec...
Source: GEO: Gene Expression Omnibus - February 9, 2024 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Mus musculus Source Type: research

Development and validation of a 23-gene expression signature for molecular subtyping of medulloblastoma in a long-term Chinese cohort
ConclusionsIn conclusion, we present a novel gene signature that is capable of accurately and reliably assigning FFPE medulloblastoma samples to their molecular subgroup, which may serve as an auxiliary tool for medulloblastoma subtyping in the clinic. Future incorporation of this gene signature into prospective clinical trials is warranted to further evaluate its clinical. (Source: Acta Neurochirurgica)
Source: Acta Neurochirurgica - February 8, 2024 Category: Neurosurgery Source Type: research

Newly Recognized Genetic Tumor Syndromes of the CNS in the 5th WHO Classification: Imaging Overview with Genetic Updates [BRAIN TUMOR IMAGING]
SUMMARY: The nervous system is commonly involved in a wide range of genetic tumor-predisposition syndromes. The classification of genetic tumor syndromes has evolved during the past years; however, it has now become clear that these syndromes can be categorized into a relatively small number of major mechanisms, which form the basis of the new 5th edition of the World Health Organization book (beta online version) on genetic tumor syndromes. For the first time, the World Health Organization has also included a separate chapter on genetic tumor syndromes in the latest edition of all the multisystem tumor series, including t...
Source: American Journal of Neuroradiology - February 7, 2024 Category: Radiology Authors: Agarwal, A., Bathla, G., Soni, N., Desai, A., Ajmera, P., Rao, D., Gupta, V., Vibhute, P. Tags: BRAIN TUMOR IMAGING Source Type: research

Cancers, Vol. 16, Pages 650: Anaplastic Lymphoma Kinase (ALK) in Posterior Cranial Fossa Tumors: A Scoping Review of Diagnostic, Prognostic, and Therapeutic Perspectives
amatianos Anaplastic Lymphoma Kinase (ALK) has been implicated in several human cancers. This review aims at mapping the available literature on the involvement of ALK in non-glial tumors localized in the posterior cranial fossa and at identifying diagnostic, prognostic, and therapeutic considerations. Following the PRISMA-ScR guidelines, studies were included if they investigated ALK’s role in primary CNS, non-glial tumors located in the posterior cranial fossa. A total of 210 manuscripts were selected for full-text review and 16 finally met the inclusion criteria. The review included 55 cases of primary...
Source: Cancers - February 2, 2024 Category: Cancer & Oncology Authors: Danai-Priskila V. Mousa Georgios Mavrovounis Dionysios Argyropoulos George Stranjalis Theodosis Kalamatianos Tags: Review Source Type: research

GSE233949 G207 and PVSRIPO treatment of medulloblastoma and pediatric high grade glioma
Contributors : Eric M Thompson ; Gregory K Friedman ; Kevin StevensonSeries Type : Expression profiling by high throughput sequencingOrganism : Homo sapiensHSV G207 and polio:rhinovirus PVSRIPO are two different viral immunotherapies used to treat malignant brain tumors in children. While some patients experience durable survival with these viral immunotherapies, many children have no response. The purpose of this work is to explore these viral immunotherapies in pediatric high grade glioma (pHGG) and medulloblastoma in order to elucidate how tumor response to treatment and to identify putative biomarkers of response and ...
Source: GEO: Gene Expression Omnibus - January 31, 2024 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing 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

Risk of serious intracranial pathology in children presenting with acute acquired comitant esotropia: a 20-year retrospective review
CONCLUSION: In this large series of pediatric patients with AACE who underwent neuroimaging, there was a small but nontrivial risk of serious intracranial pathology. In these patients, it is advisable either to obtain neuroimaging or to monitor closely for the development of concerning signs or symptoms.PMID:38281727 | DOI:10.1016/j.jcjo.2024.01.002 (Source: Canadian Journal of Ophthalmology)
Source: Canadian Journal of Ophthalmology - January 28, 2024 Category: Opthalmology Authors: Elie C ôté Y Arun Reginald Michael J Wan Source Type: research

Transcriptional Inhibition of the Mecp2 Promoter by MeCP2E1 and MeCP2E2 Isoforms Suggests Negative Auto-Regulatory Feedback that can be Moderated by Metformin
AbstractThe epigenetic factor Methyl-CpG-Binding Protein 2 (MeCP2) is a nuclear protein that binds methylated DNA molecules (both 5-methylcytosine and 5-hydroxymethylcytosine) and controls gene transcription. MeCP2 is an important transcription factor that acts in a dose-dependent manner in the brain; thus, its optimal expression level in brain cells is important. As such, its deregulated expression, as well as gain- or loss-of-function mutation, lead to impaired neurodevelopment, and  compromised structure and function of brain cells, particularly in neurons. Studies from others and us have characterized two well-recogni...
Source: Journal of Molecular Neuroscience - January 26, 2024 Category: Neuroscience Source Type: research

mRNA-based precision targeting of neoantigens and tumor-associated antigens in malignant brain tumors
ConclusionsWe have established a personalized and customizable mRNA-therapeutic approach that effectively targets a plurality of tumor antigens and demonstrated potent anti-tumor response in preclinical brain tumor models. This platform mRNA technology uniquely addresses the challenge of tumor heterogeneity and low antigen burden, two key deficiencies in targeting the classically immunotherapy-resistant CNS malignancies, and possibly other cold tumor types. (Source: Genome Medicine)
Source: Genome Medicine - January 25, 2024 Category: Genetics & Stem Cells Source Type: research

New | phs003446.v1.p1 | Profiling RNA Translation in Pediatric Medulloblastoma
​ Profiling RNA Translation in Pediatric Medulloblastoma  (study page |release notes) (Source: dbGaP, the database of Genotypes and Phenotypes)
Source: dbGaP, the database of Genotypes and Phenotypes - January 18, 2024 Category: Genetics & Stem Cells Tags: StudyRelease Source Type: research

Actions speak louder than ORFs: A non-canonical microprotein promotes medulloblastoma oncogenesis
In this issue of Molecular Cell, Hofman et  al.1 identify the translation of a non-canonical upstream open reading frame of the ASNSD1 gene into a microprotein that supports medulloblastoma growth. (Source: Molecular Cell)
Source: Molecular Cell - January 18, 2024 Category: Cytology Authors: Alberto Delaidelli, Jessica Oliveira de Santis, Poul H. Sorensen Tags: Preview Source Type: research