Subependymal giant cell astrocytoma (SEGA): a case report and review of the literature

Abstract

BackgroundSubependymal giant cell astrocytoma is a rare tumor that occurs in the wall of the lateral ventricle and foramen of Monro and, rarely, in the third ventricle. It is one of the intracranial lesions found in tuberous sclerosis complex (which include subependymal nodules, cortical tubers, retinal astrocytoma and subependymal giant cell astrocytoma), but cases without such lesions have also been reported in the literature. It was described for the first time in 1908 by Vogt as part of the typical triad of tuberous sclerosis complex. At the 2012 Washington Consensus Conference, it was decided by the invited expert panel to document the definition of subependymal giant cell astrocytoma as a lesion at the caudothalamic groove with either a size of more than 1 cm in any direction or a subependymal lesion at any location that has shown serial growth on consecutive imaging regardless of size. Most subependymal giant cell astrocytomas will show avid enhancement after contrast administration; however, a growing subependymal lesion even in the absence of enhancement should be considered a subependymal giant cell astrocytoma.Case presentationWe report a case of subependymal giant cell astrocytoma in a 10-year-old white girl, who had no clinical symptoms of tuberous sclerosis. A computed tomography scan revealed a voluminous mass in her perilateral ventricle. An extemporaneous examination was in favor of a benign ganglioglioma tumor. After fixation in 10 % neutral-buffered formalin, embedding in paraffin and staining with hematoxylin, eosin and safran, the definitive diagnosis was subependymal giant cell astrocytoma.ConclusionsSubependymal giant cell astrocytoma is a rare tumor of the central nervous system whose diagnosis is based on clinical, radiological, histological and immunohistochemical arguments. For its rarity, we must consider this diagnosis when faced with a mass near the foramen of Monro in the pediatric population even if there are no other features of tuberous sclerosis complex.

Central Nervous System Cancers, Version 3.2020, NCCN Clinical Practice Guidelines in Oncology

“…Though they are generally slow-growing and histologically benign, they can also be associated with manifestations such as hydrocephalus, intracranial pressure, and seizures. 63 SEGAs can be distinguished from subependymal nodules by their characteristic serial growth. 64 These tumors occur in 5%-20% of individuals with tuberous sclerosis complex (TSC).…”

Subependymal Giant Cell Astrocytoma without Clinically or Genetically Identifiable Tuberous Sclerosis Complex: A Case Report

“…Genetically, TSC is typically screened for using the TSC1 gene (chromosome 9a34) or the TSC2 gene (chromosome 16p13), both of which are tumor suppressor genes. These mutations are sporadic approximately 60-80% of the time [6,12]. Genetic analysis for deletions and mutations in both TSC1 and TSC2 were performed on this patient's peripheral blood, and no abnormalities were identified.…”

“…Of patients with TSC, approximately 5-20% have SEGA. However, almost all patients with SEGA suffer from TSC [5,6]. Only sparse cases in the literature detail patients with SEGA and no clinical signs of TSC [7][8][9][10][11].…”

Piecing Together a Puzzle of Exceptional Lesions: A Retrospective Study of a Potpourri of 160 Space-Occupying Lesions of the Central Nervous System

“…Histopathological examination of an intraventricular lesion revealed large polygonal to elongate cells resembling astrocytes or ganglion cells with abundant, finely granular eosinophilic cytoplasm, bright pink cellular processes, large round/oval nuclei, and prominent nucleoli [ 21 ]. Necrosis was also seen yet as per standard textbooks, which did not influence the upgrading of tumor.…”