Rare case of subependymal giant cell astrocytoma without clinical features of tuberous sclerosis: Case report and literature review

Abstract

Subependymal giant cell astrocytoma (SEGA) is a slow-growing tumor originating in the walls of the lateral ventricles, usually presenting in the first two decades of life, and is often associated with tuberous sclerosis complex. However, few cases of SEGA without any clinical features of tuberous sclerosis complex have been reported. Here, we present a case of an 11-year-old boy with right hemibody weakness and headache for 1.5 years. He was diagnosed with solitary SEGA without any clinical features of tuberous sclerosis complex. Magnetic resonance imaging of the brain showed an intracranial space-occupying lesion in the left internal capsule. Biopsy was consistent with SEGA. There were no stigmata of tuberous sclerosis complex. The patient was treated with curative intent by radiotherapy.

Subependymal giant cell astrocytoma harboring a PRRC2B‐ALK fusion: A case report

“…12 Furthermore, some patients developed only one TSC-associated manifestation, that is, sporadic SEGA or sporadic lymphangiomyomatosis. 4,13,14 Somatic TSC1/TSC2 variants were detected in some but not all of these cases.…”

“…1 However, unresectable recurrences, metastasis, and SEGA-associated death have also been reported. [1][2][3][4] Typically, SEGA develops in children with tuberous sclerosis complex (TSC), which is characterized by manifestations involving the skin, brain, kidney, and retina. 1,5 The pathophysiology of TSC is attributed to the altered function of hamartin and tuberin encoded by TSC1 and TSC2, respectively, and subsequent activation of the mTOR pathway.…”

“…To the Editor: Subependymal giant cell astrocytoma (SEGA) is a WHO grade 1 tumor with a reported 5‐year overall survival rate of >90% . However, unresectable recurrences, metastasis, and SEGA‐associated death have also been reported . Typically, SEGA develops in children with tuberous sclerosis complex (TSC), which is characterized by manifestations involving the skin, brain, kidney, and retina .…”

“…Martin et al reported that somatic or germline TSC1/TSC2 variants were not detected in two out of 66 patients with TSC when using whole‐exome sequencing, single‐nucleotide polymorphism arrays, and targeted deep sequencing . Furthermore, some patients developed only one TSC‐associated manifestation, that is, sporadic SEGA or sporadic lymphangiomyomatosis . Somatic TSC1/TSC2 variants were detected in some but not all of these cases.…”

Radiotherapy for subependymal giant cell astrocytoma: time to challenge a historical ban? Case report and review of the literature.

“…Fourteen were single fraction SRS (Gamma Knife) and in 6 of those SEGA (3 in one single publication) tumor control was unsatisfactory. (11,12). In a very early publication fractionated X-rays were used, no evolution was noted after 13y of follow-up (13).…”