Dysembryoplastic neuroepithelial tumor (DNET)
Septal DNET generally presents with symptoms related to obstructive hydrocephalus.[69,70] Septal DNET has an indolent clinical behavior, with most tumors not requiring treatment other than surgery. In a single-institution series that incorporated other literature-reported cases, the median age at presentation was in the adolescent age range.
Mutations that are common in low-grade gliomas (e.g., BRAF V600E) and in cortical DNETs (FGFR1 mutations) are uncommon in septal DNET.[70-72] Instead, mutations in PDGFRA at the K385 residue typify most cases of septal DNET.
How many participants are enrolled?
Available CBTN Biospecimens
participants with flash-frozen tissue available
participants with match blood
participants with match parental specimens
participants with cerebral spinal fluid
Available CBTN Pre-clinical Models
genomically characterized cell lines with data available
genomically characterized pdx with data available
Projects supported by the CBTN
Data projects supported
Specimen projects supported
What type of data are available?
Exploring the Possible Role of Mutations in MTOR pathway Genes in the Pathogenesis of DNET tumors
Gangliogliomas (GG) and dysembryoplastic neuroepithelial tumors (DNET) are the most frequently identified tumors in epilepsy surgical series, yet their molecular determinants are poorly understood. Their characteristic histopathological features, together with the coexistence with cortical dyspla
Anna Maria Buccoliero
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You can request raw data by completing this form. The review normally takes 1 week. Once approved you can access the raw data by creating cohorts of interest on the Kids First Data Resource Portal and performing analysis on the cloud in Cavatica
Flash frozen tissue is tissue from a surgical procedure where the tissue is frozen instantly in liquid nitrogen to ensure there is no degradation
Tissue in freezing media is tissue from a surgical procedure where the tissue is frozen 1 degree at a time over a 24-hour period to keep the tissue intact and compatible with regrowing the tumor for testing
Matched blood is blood that is collected from the patient in addition to tissue from the tumor. This blood provides researchers a direct comparison between normal and tumor specimens for this specific patient
Cerebral Spinal Fluid (CFS) is fluid taken from the the nervous system that researchers can use to study brain tumors
Paternal and maternal specimens are specimens taken from the biological parents of the subject. These specimens provide researchers with the ability to compare tumor and normal tissue and predispositions