Medulloblastoma

This well-characterized model provides a physiologically and functionally relevant platform for further dissecting the reciprocal interactions present between various brain cancer cells and vascular endothelial cells, supporting the development of targeted therapeutic strategies and advancing our understanding of brain tumor biology.

Low-cost methods resolved 90% of cases; NanoString clarified the remainder, achieving 98.8% precision. This first molecular characterization of pediatric MB in Argentina demonstrates that a tiered, conventional-tools-based approach can deliver high diagnostic accuracy and prognostic value, supporting its integration into routine care in resource-limited settings.

P=N/A, N=500, Recruiting, Universitätsklinikum Hamburg-Eppendorf | Suspended --> Recruiting

This case represents the first report of a BCOR ITD in an IDH-mutant WHO grade 4 astrocytoma. The discovery expands the molecular spectrum of high-grade astrocytomas and highlights the need for further research into the biological, prognostic, and therapeutic significance of BCOR alterations in these tumors.

Consistently, GPC6 enhanced SHH pathway activity by upregulating GLI1 expression, supported ciliogenesis that is essential for signal transduction, and facilitated the secretion of SHH ligands via extracellular vesicles. These findings establish GPC6 as a critical regulator of SHH-MB progression and highlight its potential as a therapeutic target.

Immunofluorescence, NGS analysis, and DNA methylation profiling revealed that the PDTs faithfully mirrored the cellular nature, the genetic and epigenetic landscape of their matched primary tumors. Our study shows the feasibility of generating PDTs, even from rarer entities, that recapitulate the genetic and epigenetic features of primary tumors, highlighting their potential as models for tumor biology studies and precision medicine.

IDH1 inhibition reverses resistance-mediated chromatin changes and enables radiation re-sensitization. Ultimately, these findings demonstrate the efficacy of single-cell multiome analysis in elucidating resistance mechanisms and identifying targetable pathways for MYC-driven medulloblastoma.

DNA methylation profiling successfully classified gynecologic neuroectodermal tumors as known CNS tumor or sarcoma entities. Epigenetic and exomic studies suggest a male genome and increased maternal allelic contribution in CNS-like tumors, suggesting development via conception or chimerism.

Our study provides a comprehensive characterisation of the spatial distribution of certain immune cells and tumour cells within the tumour core of patients with various subtypes of MB, underscoring the prognostic significance of B cells in these individuals.

The bone marrow study revealed interstitial infiltration by small round blue cells. Immunohistochemistry showed these cells were positive for synaptophysin, supporting a diagnosis of medulloblastoma metastasis to the bone marrow.

Close to one-quarter of the DMRs overlap known copy number aberrations in medulloblastoma, nominating potential enhancer and promoter elements impacted by these genomic aberrations. Collectively, our data provide a rich resource to start decoding the functional impact of non-coding variation on gene regulation in the developing cerebellum and on genomic dysregulation in diseases of cerebellar growth.

We also identify NeuroD1 as a co-repressor that collaborates with Sin3A/Hdac1 to inhibit Atoh1 transcription. Our findings highlight the central role of the Sin3A complex in orchestrating distinct stages of cerebellar GC lineage development and may provide insights into Sin3A-related cerebellar disorders and medulloblastoma in human.