Disseminated diffuse midline glioma associated with poorly differentiated orbital lesion and metastases in an 8-year-old girl: case report and literature review.

Background: Disseminated diffuse midline glioma (DMG) is a devastating diagnosis. Molecular subtyping has increased our understanding of this tumor.

Case: Here, we report the case of an 8-year-old girl who presented with symptoms of brainstem dysfunction and was found to have disseminated DMG with lesions in the pons, thalamus and bilateral temporal lobes.

Giant, symptomatic mixed vascular malformation containing a cavernoma, developmental venous anomaly, and capillary telangiectasia in a 19-month-old infant.

Intracranial mixed vascular malformations (MVMs) are defined as any combination of a developmental venous anomaly (DVA), cerebral cavernous malformation (CCM), capillary telangiectasia (CTG), or arteriovenous malformation (AVM) within a single, contiguous lesion. However, most MVMs described in the literature contain only 2 pathologically discrete malformations; juxtaposition of 3 or more abnormalities in a single lesion remains exceedingly rare. We present the case of a 19-month-old female with new onset focal seizures and a 4-cm right basal ganglia lesion initially believed to be an embryonal neoplasm.

Comprehensive analysis of diverse low-grade neuroepithelial tumors with FGFR1 alterations reveals a distinct molecular signature of rosette-forming glioneuronal tumor.

The FGFR1 gene encoding fibroblast growth factor receptor 1 has emerged as a frequently altered oncogene in the pathogenesis of multiple low-grade neuroepithelial tumor (LGNET) subtypes including pilocytic astrocytoma, dysembryoplastic neuroepithelial tumor (DNT), rosette-forming glioneuronal tumor (RGNT), and extraventricular neurocytoma (EVN). These activating FGFR1 alterations in LGNET can include tandem duplication of the exons encoding the intracellular tyrosine kinase domain, in-frame gene fusions most often with TACC1 as the partner, or hotspot missense mutations within the tyrosine kinase domain (either at p.N546 or p.

The genetic landscape of ganglioglioma.

Ganglioglioma is the most common epilepsy-associated neoplasm that accounts for approximately 2% of all primary brain tumors. While a subset of gangliogliomas are known to harbor the activating p.V600E mutation in the BRAF oncogene, the genetic alterations responsible for the remainder are largely unknown, as is the spectrum of any additional cooperating gene mutations or copy number alterations.

Infiltrative brainstem and cerebellar neurocytoma.

Neurocytomas are typically intraventricular in location, and extraventricular neurocytomas are uncommon. The authors report the unique case of a 15-year-old girl who was found to have a low-grade neurocytoma infiltrating the brainstem and cerebellum and spreading along the CSF pathways to the lateral and third ventricles. The patient underwent endoscopic third ventriculostomy to treat associated hydrocephalus, and biopsy specimens from intraventricular tumor nodules were obtained.

Apparent encephalocele in twin fetus papyraceus with twin-reversal arterial perfusion.

An apparently iniencephalic or exencephalic monoamniotic monochorionic female twin fetus, delivered as a fetus papyraceus at 28 weeks of gestation, had severe anomalies of the central nervous system and spine, including occipital encephalocele with a defect of the occipital bone. The encephalocele contained a spherical mass of autolyzed brain tissue without identifiable cerebellum or vermis. The cervical canal was widely patent dorsally, there were severe bony anomalies, including agenesis and fusion of vertebrae in the cervicothoracic spine.