title: Subependymal giant cell astrocytoma in the absence of tuberous sclerosis complex: case report.
abstract: The authors report the case of a 14-year-old male with a subependymal giant cell astrocytoma (SEGA) that occurred in the absence of tuberous sclerosis complex (TSC). The patient presented with progressive headache and the sudden onset of nausea and vomiting. Neuroimaging revealed an enhancing left ventricular mass located in the region of the foramen of Monro with significant mass effect and midline shift. The lesion had radiographic characteristics of SEGA; however, the diagnosis remained unclear given the absence of clinical features of TSC. The patient underwent gross-total resection of the tumor with resolution of his symptoms. Although tumor histology was consistent with SEGA, genetic analysis of both germline and tumor DNA revealed no TSC1/2 mutations. Similarly, a comprehensive clinical evaluation failed to reveal any clinical features characteristic of TSC. Few cases of SEGA without clinical or genetic evidence of TSC have been reported. The histogenesis, genetics, and clinical approach to this rare lesion are briefly reviewed.
authors.affiliation: Departments of 1 Neurosurgery and.
authors.forename: Thomas L
authors.initials: TL
authors.lastname: Beaumont
authors.affiliation: Departments of 1 Neurosurgery and.
authors.forename: Jakub
authors.initials: J
authors.lastname: Godzik
authors.affiliation: Neuropathology, Washington University School of Medicine, and.
authors.forename: Sonika
authors.initials: S
authors.lastname: Dahiya
authors.affiliation: Departments of 1 Neurosurgery and.|St. Louis Children's Hospital, St. Louis, Missouri.
authors.forename: Matthew D
authors.initials: MD
authors.lastname: Smyth
mesh_terms: D000293:Adolescent; D001254:Astrocytoma / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery; D001932:Brain Neoplasms / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery; D003399:Craniotomy; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D013238:Stereotaxic Techniques; D014402:Tuberous Sclerosis / Q000175:diagnosis
keywords: GFAP = glial fibrillary acidic protein; SEGA; SEGA = subependymal giant cell astrocytoma; TSC; TSC = tuberous sclerosis complex; mosaicism; oncology; subependymal giant cell astrocytoma; tuberous sclerosis complex