Research in molecular mechanisms underlying neuropathology has revealed significant insights into the genetic and cellular factors contributing to various neurological disorders. One pivotal study developed a whole-miRNome sequencing platform, enabling the targeted sequencing of approximately 2000 human miRNA genes and 28 miRNA biogenesis genes, which could enhance our understanding of genetic variations in diseases like cancer (ref: Galka-Marciniak doi.org/10.1093/nar/). Another study focused on extrachromosomal DNA (ecDNA) amplification, demonstrating that ecDNA-driven oncogene dosage heterogeneity promotes rapid adaptation to therapy in MYCN-amplified cancers. This research highlighted how ecDNA dynamics can lead to treatment resistance through increased phenotypic diversity, a mechanism distinct from traditional chromosomal amplification (ref: Montuori doi.org/10.1158/2159-8290.CD-24-1738/). Furthermore, the exploration of lymphotoxin-driven myositis revealed a mutual reinforcement with impaired autophagy in murine models, emphasizing the role of inflammatory pathways in muscle degeneration (ref: Bremer doi.org/10.1093/brain/). The identification of biallelic variants in COX18 as a novel cause of Charcot-Marie-Tooth disease further underscores the importance of mitochondrial dynamics in neuropathology (ref: Armirola-Ricaurte doi.org/10.1093/brain/). Lastly, a comparative analysis of gene expression profiles in immunotherapy-induced myositis versus spontaneous dermatomyositis provided critical insights into the molecular pathways involved, aiding in the differentiation of these conditions (ref: Röckel doi.org/10.1038/s41598-025-11944-5/).

The field of liquid biopsy is rapidly evolving, particularly in its application to neuro-oncology, where it offers promising avenues for diagnosis and monitoring. A comprehensive review highlighted the critical role of preanalytical variables in the liquid biopsy approach for brain tumors, emphasizing that factors such as sample collection and handling significantly impact the reliability of diagnostic outcomes (ref: Bettegowda doi.org/10.1093/neuonc/). In a practical application, a case study demonstrated how cerebrospinal fluid liquid biopsy effectively guided the differential diagnosis of relapsed medulloblastoma versus secondary glioma in a pediatric patient, showcasing the potential of this technique in clinical settings (ref: Fischer doi.org/10.1093/noajnl/). Additionally, DNA methylation-based profiling emerged as a valuable tool for identifying tumors in neuro-oncological cases where histopathological evidence is lacking, thus enhancing diagnostic accuracy in challenging scenarios (ref: Uhl doi.org/10.1016/j.bas.2025.104256/). Collectively, these studies underscore the transformative potential of liquid biopsy methodologies in improving diagnostic precision and patient management in neuro-oncology.

Tumor biology and treatment strategies are at the forefront of neuro-oncology research, particularly concerning glioblastoma and pediatric low-grade gliomas. A consensus review on glioblastoma management emphasized the importance of the 2021 WHO classification updates, which refined the criteria for glioblastoma diagnosis, thereby facilitating more homogeneous patient populations for clinical trials and improving therapeutic strategies (ref: Wen doi.org/10.1093/neuonc/). In pediatric gliomas, a genomic analysis revealed that 5.3% of gliomas harbor FGFR alterations, with a notable incidence of nearly 9% in pediatric cases, suggesting potential therapeutic targets for this demographic (ref: Apfelbaum doi.org/10.1038/s41467-025-61820-z/). Furthermore, the study of tumor-infiltrating lymphocytes (TILs) in glioblastoma demonstrated a successful expansion of tumor-reactive TILs in over half of the patients, indicating a promising avenue for personalized cell therapy (ref: Maffezzini doi.org/10.1038/s41467-025-62263-2/). The reclassification of oligodendrogliomas based on the 2021 WHO criteria also revealed significant implications for diagnosis and treatment, as 91 out of 182 cases were confirmed to possess IDH mutations and 1p/19q codeletions (ref: Vaz-Salgado doi.org/10.1093/braincomms/). These findings collectively highlight the dynamic landscape of tumor biology and the necessity for evolving treatment strategies in neuro-oncology.

Neurodegenerative disorders continue to pose significant challenges in understanding their pathophysiology and developing effective treatments. A systematic review of treatment-refractory meningiomas revealed the lack of standardized criteria, which complicates research comparability and treatment evaluation, highlighting the need for clearer definitions and guidelines (ref: Jensen doi.org/10.1007/s11060-025-05154-2/). In Parkinson's disease research, montelukast was shown to alleviate neuroinflammation and improve motor functions in a model, suggesting that existing anti-inflammatory agents could serve as potential disease-modifying treatments (ref: Strempfl doi.org/10.1016/j.neurot.2025.e00690/). Additionally, transcriptomic analyses in atypical frontotemporal lobar degeneration with ubiquitin-positive inclusions (aFTLD-U) revealed significant gene expression and splicing alterations in non-neuronal cells, shedding light on the molecular underpinnings of this condition (ref: Alidadiani doi.org/10.1007/s00401-025-02919-x/). The characterization of CNS embryonal tumors with PLAG1 fusions as a distinct subtype further emphasizes the complexity of neurodevelopmental tumors and their genetic profiles (ref: Keck doi.org/10.1007/s00401-025-02917-z/). Lastly, the development of ROSIE, an AI framework for multiplex immunofluorescence staining from histopathology images, represents a significant advancement in the diagnostic capabilities for neurodegenerative diseases (ref: Wu doi.org/10.1038/s41467-025-62346-0/).

The integration of gene expression and molecular profiling techniques has significantly advanced our understanding of various neurological conditions. A study utilizing single-nucleus transcriptomics in patients with polyneuropathies identified nerve cell type markers and revealed unexpected heterogeneity of perineurial cells, providing insights into the complex mechanisms underlying these disorders (ref: Heming doi.org/10.1038/s41467-025-62964-8/). Additionally, the exploration of dorsal arachnoid webs as a rare cause of spinal cord compression highlighted the need for evidence-based treatment recommendations, as the etiology remains unclear and requires further investigation (ref: Na doi.org/10.1016/j.bas.2025.104336/). The differential gene expression analysis in immunotherapy-induced myositis versus spontaneous dermatomyositis further elucidated the molecular pathways involved, aiding in the clinical differentiation of these conditions (ref: Röckel doi.org/10.1038/s41598-025-11944-5/). Collectively, these studies underscore the critical role of molecular profiling in enhancing diagnostic accuracy and understanding the pathophysiology of neurological diseases.

Clinical management and guidelines in neuro-oncology are evolving rapidly, particularly in the context of glioblastoma and liquid biopsy applications. The consensus review on glioblastoma management emphasized the significance of the 2021 WHO classification updates, which refined diagnostic criteria and improved the understanding of prognosis and treatment options for glioblastoma patients (ref: Wen doi.org/10.1093/neuonc/). Additionally, the review on preanalytical variables in liquid biopsy approaches for brain tumors highlighted the critical impact of sample handling and tumor heterogeneity on diagnostic outcomes, underscoring the need for standardized protocols to enhance clinical applicability (ref: Bettegowda doi.org/10.1093/neuonc/). Furthermore, the study on extrachromosomal DNA-driven oncogene dosage heterogeneity in MYCN-amplified cancers revealed how this mechanism contributes to treatment resistance, suggesting that understanding these dynamics could inform future therapeutic strategies (ref: Montuori doi.org/10.1158/2159-8290.CD-24-1738/). These findings collectively emphasize the importance of integrating updated guidelines and innovative diagnostic approaches to improve patient outcomes in neuro-oncology.