Circumscribed Gliomas
Efficacy and safety of trametinib use in pediatric brain tumors in a low- to middle-income country.
Farah R, et al
A retrospective case series from Lebanon's LAU Medical Center Rizk Hospital found that trametinib, a MEK inhibitor, produced clinical improvement in all four pediatric patients with progressive low-grade gliomas (LGGs) harboring distinct molecular drivers (KIAA1549-BRAF, NF1 Loss, and BRAF V600E), w…
Source →Systemic metastases in a BRAF V600E-mutant pleomorphic xanthoastrocytoma classified by DNA methylation: treatment with BRAF/MEK inhibitors and liquid biopsy monitoring.
Raschio B, et al
A case of BRAF V600E-mutant pleomorphic xanthoastrocytoma (PXA) with rare systemic metastases was accurately classified using DNA methylation profiling, underscoring the diagnostic value of molecular techniques when histology alone is ambiguous. The patient was treated with BRAF and MEK inhibitor co…
Source →Deep Learning Pipeline for Automatic Segmentation, Classification, and Molecular Subtyping of Three Pediatric Posterior Fossa Tumors Using T2-Weighted MRI.
Jin Y, et al
A fully automated deep learning pipeline using standard T2-weighted MRI has been developed and validated to segment, classify, and molecularly subtype three pediatric posterior fossa tumors — medulloblastoma, ependymoma, and pilocytic astrocytoma — achieving tumor segmentation Dice scores of 0.94–0.…
Source →Third Ventricular Chordoid Glioma With TTF-1 Positivity: A Diagnostic and Therapeutic Challenge.
Shen Z, et al
A rare primary brain tumor called chordoid glioma of the third ventricle is frequently misdiagnosed because its imaging appearance is nonspecific, and this case report identifies TTF-1 immunoreactivity as the critical immunohistochemical marker needed for a definitive pathological diagnosis. The stu…
Source →Posttherapy [18F]FDOPA PET Findings in an Anaplastic Pleomorphic Xanthoastrocytoma With a BRAF V600E Mutation.
Passoni J, et al
[18F]FDOPA PET imaging proved clinically valuable for monitoring targeted therapy in a 10-year-old boy with anaplastic pleomorphic xanthoastrocytoma (APXA) harboring a BRAF V600E mutation, who presented with generalized tonic-clonic seizures occurring 3–4 times weekly. This rare pediatric high-grade…
Source →Time-dependent predictors of seizure outcome in grade 1-2 glioma-related epilepsy.
Park K, et al
A retrospective study of 100 patients with WHO grade 1–2 low-grade glioma found that seizure presentation at diagnosis — rather than any treatment-related variable — is the single strongest independent predictor of favorable long-term seizure freedom (OR=6.37, 95% CI=2.07–19.61, p<0.01) and reduced …
Source →"From misdiagnosis to precision medicine: strengthening pediatric neuro-oncology care in LMICs toward equitable pLGG outcomes".
Baroni LV, et al
Children with low-grade gliomas (pLGG) in low- and middle-income countries (LMICs) face dramatically worse survival outcomes than those in high-income settings, with international pathology review programs revealing misclassification rates of 18–32% for pediatric CNS tumors, driven largely by limite…
Source →Beyond one-to-one mappings: Modelling distributed lesion-symptom relationships with multilayer networks.
Nave R, et al
A multilayer network analysis of 252 patients who underwent awake neurosurgery for low-grade glioma reveals that the relationship between structural brain damage and cognitive deficits spans a continuum — from simple one-to-one mappings to complex many-to-many associations — overturning the long-sta…
Source →A MAGIBU-based model for pediatric and juvenile CNS tumors: an in-house epigenetic decision-support framework compared with online DNA methylation classifiers.
Mattei G, et al
A novel cross-platform epigenetic framework called MAGIBU achieved a Cohen's κ of 0.855 in classifying diagnostically ambiguous pediatric central nervous system tumors, substantially outperforming the EpiDiP classifier (κ = 0.278), which frequently misplaced low-grade tumors near higher-grade refere…
Source →Endoscopic third ventriculostomy for obstructive hydrocephalus combined with biopsy for tumors located in the tectum/posterior third ventricle using a single burr hole technique guided by electromagnetic navigation in pediatric neurosurgery.
Hermann EJ, et al
A single burr hole technique combining endoscopic third ventriculostomy (ETV) and electromagnetic navigation-guided tumor biopsy proved safe and feasible in 10 pediatric patients with obstructive hydrocephalus caused by tumors of the tectum/posterior third ventricle. ETV was completed without intrao…
Source →Leptomeningeal Dissemination in TERT Promoter-mutant Anaplastic Pleomorphic Xanthoastrocytoma Responding to BRAF-MEK Inhibition: A Case Report.
Kitano R, et al
A 22-year-old man with recurrent anaplastic pleomorphic xanthoastrocytoma (WHO grade 3) harboring both BRAF V600E and TERT promoter mutations achieved a partial radiological response and meaningful symptomatic improvement after treatment with combined dabrafenib and trametinib following spinal lepto…
Source →Report from the National Pediatric Cancer Foundation - infantile glioma and other non-embryonal central nervous system tumors: evolving molecular advances and current treatment landscape.
Cantor E, et al
A comprehensive review from the National Pediatric Cancer Foundation establishes that non-embryonal infant brain tumors span a wide spectrum of outcomes: low-grade gliomas demonstrate survival approaching 100%, infant-type hemispheric gliomas (IHG) — a molecularly distinct entity driven by receptor …
Source →Spindle Cell Predominant Anaplastic Pleomorphic Xanthoastrocytoma (WHO Grade 3) With Focal Piloid Features: A Rare Case Study With Comprehensive Molecular Profiling.
Shastri C, et al
Clinicians report a rare case of spindle cell-predominant anaplastic pleomorphic xanthoastrocytoma (PXA, WHO Grade 3) with focal piloid features, presenting in a patient with acute neurologic symptoms and a large, well-circumscribed enhancing cerebral mass with limited surrounding edema. Histologic …
Source →Methylation profiling and alternative classification approaches in a glioma-enriched FFPE stereotaxic biopsy cohort.
Weber KJ, et al
A study of 237 glioma-enriched FFPE stereotaxic biopsy samples demonstrates that DNA methylation profiling is broadly applicable to small brain tumor specimens, with 90.5% of cases (n=232) successfully assigned to a methylation class and 96.9% showing detectable copy number variations. Classificatio…
Source →Tumor-type-specific expression of TTF-1 in primary central nervous system tumors classified by the 2021 WHO criteria.
Xu L, et al
A systematic study of 214 primary central nervous system tumors classified by the 2021 WHO criteria found that the immunohistochemical marker TTF-1 is highly sensitive for central neurocytomas (89.47%) and fully specific for subependymal giant cell astrocytoma (SEGA) among circumscribed gliomas, est…
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