CNS Tumor

Maximal safe resection remains the cornerstone of management, with radiotherapy or chemotherapy reserved for selected cases. Despite potential morbidity, long-term survival and functional outcomes are favorable for many patients.

CNS involvement in ACC was associated with poor outcomes despite multimodal therapy. NOTCH1 alterations and leptomeningeal disease were frequent in this cohort, but these findings should be interpreted as hypothesis-generating given the small sample size and absence of a matched non-CNS comparator cohort.

Histology demonstrated classic stellate/spindle cell morphology, abundant myxoid stroma, and positivity for EMA, CD99, desmin, and CD163. Following gross-total resection, she remains disease-free at 17 months, representing the second-oldest reported patient to date.

This morphologic divergence underscores the imperative for molecular validation in SFTs with atypical histologic features. Our findings advocate a refined diagnostic protocol: RNA-based next-generation sequencing (RNA-NGS) must be prioritized in STAT6-immunopositive central nervous system (CNS) mesenchymal tumors when DNA-NGS fails to identify the pathognomonic NAB2::STAT6 fusion, as demonstrated by the resolution of diagnostic ambiguity through detection of a cryptic NAB2-exon4::STAT6-UTR fusion in this case.

Integrated pathologic-molecular analysis is essential for accurately classifying supratentorial papillary glioneuronal tumors. Classic PGNTs are molecularly defined by recurrent PRKCA fusions, while BRAF-altered cases warrant reclassification.

The detection of 1p19q co-deletion in other tumors and its peculiar relationship with MGMT methylation made us think of the complexity of tumor biology and how both genetic and epigenetic factors interplay to influence tumor behavior and response to therapy.

Clinically, two patients died within 3-9 months, while one remains clinically stable despite radiological progression. DHG-H3 K27 represents a rare hemispheric glioma subgroup sharing molecular and epigenetic features of DMG-H3 K27 without midline involvement, underscoring biological heterogeneity and the importance of integrated molecular classification.

In addition, HOXD11 silencing markedly inhibited subcutaneous and intracranial tumor growth in nude mice; furthermore, HOXD11 knockout can even halt the growth of subcutaneous tumors. Collectively, our findings suggest that the lncRNA CROCCP2/miR-5584-5p/HOXD11 axis contributes to glioma cell malignant phenotypes in vitro and tumor growth in vivo, at least partly through negative regulation of autophagy, providing a potential molecular target for glioma therapy.

Although mice with Rb1 gene inactivation invariably develop pituitary adenomas, and some evidence suggests that a subset of pituitary adenomas have lack or reduced expression of Rb protein, to date no evidence has been reported that patients with germline mutations in the RB1 gene (that encodes for Rb protein) are at risk of developing pituitary adenomas. Here, we report the case of a patient with childhood (age 1 year) onset retinoblastoma because of a germline pathogenic variant of the RB1 gene who presented with a somatotropinoma diagnosed at a young age (20) and whose pituitary adenoma cells showed loss of expression of Rb protein by immunohistochemistry, suggesting a role of Rb in preventing the development of pituitary adenomas.

This study emphasizes the heterogeneity of IHG and underscores the necessity for molecular surveillance in recurrent instances. The findings aid in refining diagnostic criteria and understanding the prognostic implications of genetic alterations in IHG.

Oligo Cdkn2a tumors displayed metabolic and transcriptional changes associated with IDH and CIC mutations, and single cell sequencing identified a bias towards oligodendrocyte differentiation compared to an IDH wild-type glioblastoma mouse model. Oligo Cdkn2a tumors represent the first mouse model system to recapitulate the genetic, histological and transcriptional features of human IDH-mutant 1p/19q-codeleted oligodendrogliomas, offering a platform to further dissect tumor biology and test new therapeutic strategies.

This single-institution molecularly reclassified series highlights clinically relevant differences between intraventricular and extraventricular pediatric supratentorial ependymomas in presentation, surgical complexity, and treatment burden. Our findings support maximal safe resection as the central therapeutic strategy while emphasizing the value of integrated molecular diagnostics and prolonged surveillance, particularly in light of late recurrence and secondary neoplastic events.