Ependymoma

This study developed a deep learning framework for non-invasive prediction of Ki-67 and p53 in spinal ependymomas, integrating multimodal MRI and clinical data. The SegFormer model achieved high-precision segmentation, ensuring robust feature extraction. LGBMNet, combining Multilayer Perceptron and Light Gradient Boosting Machine, demonstrated strong predictive performance. Our results confirm that deep learning can effectively predict tumor biomarkers preoperatively, aiding precision neurosurgery.

Genetic testing characteristically identifies a germline pathogenic variant (often truncating) in the NF2 gene. This review explores the spectrum of clinical disease that arises in NF2-SWN when presenting in childhood.

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 analysis suggests that the oncogenesis process antagonizes the long Polycomb loop maintenance in most cancers, yet certain cancers may still preserve strong long Polycomb loops from cell-of-origin. The maintenance of long Polycomb loops sensitizes cells to Polycomb inhibition, indicating that such loops could be an epigenomic biomarker for pharmacological or genetic Polycomb inhibition.

The patient underwent gross total resection followed by adjuvant chemoradiotherapy and remains recurrence-free eight years post-treatment. Further investigation of additional cases is warranted to better understand the pathogenesis of this rare tumor.

Posterior fossa ependymomas are now grouped by methylation profile into category A-typical posterior fossa ependymoma and category B which present in older children with smaller lesions with a better prognosis. Spinal ependymoma is relatively unchanged by molecular characterization apart from the new MYCN-altered tumor which has poor prognosis and is often advanced/disseminated at presentation.

In conclusion, ZFTA::NCOA1/2-rearranged epithelioid mesenchymal tumors represent a novel, morphologically distinct entity, genetically and epigenetically overlapping with chondroid lipoma. Expanded cohorts and long-term follow-up are necessary to clarify their precise classification and biologic behavior.

Inhibiting IDH mutations with vorasidenib lowers D-2HG and is beneficial to patients. Other drugs like ONC201 and metformin can metabolically suppress oncogenic chromatin states in pediatric gliomas. This dynamic cross talk between metabolism and epigenetics not only underpins tumor biology but also presents opportunities for innovative therapeutic strategies.

P1/2, N=83, Active, not recruiting, GlaxoSmithKline | Trial completion date: Jan 2032 --> Oct 2026 | Trial primary completion date: Jan 2032 --> Oct 2026

P=N/A, N=20, Active, not recruiting, Massachusetts General Hospital | Terminated --> Active, not recruiting | Trial completion date: Dec 2024 --> Dec 2027 | Trial primary completion date: Nov 2021 --> Jun 2027

P2, N=30, Not yet recruiting, University of California, San Francisco

Metabolomics data indicate that EZHIP leads to repression of methionine and polyamine metabolism, suggesting links between metabolic and epigenetic changes that are observed in PFA. Collectively, our results expand the repertoire of tumor types known to harbor EZHIP mutations and shed light on EZHIP-dependent metabolic and transcriptional programs in relevant neural models.