Rapid Regrowth of Solitary Subependymal Giant Cell Astrocytoma. Case Report.

Yamamoto, Keiko; Yamada, Kazumichi; Nakahara, Tadashi; Ishihara, Akira; Takaki, Shuichi; Kochi, Masato; Ushio, Yukitaka

doi:10.2176/nmc.42.224

Cited by 23 publications

(7 citation statements)

References 12 publications

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“…7,10,15,17,20,21 It is important to note that none of the previously reported cases were subjected to TSC1/2 gene sequencing, leaving the histogenesis of these particular lesions unclear. Nevertheless, the absence of clinical features of TSC in patients with solitary SEGA has been attributed to somatic mosaicism.…”

Section: 21 Discussionmentioning

confidence: 99%

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Subependymal giant cell astrocytoma in the absence of tuberous sclerosis complex: case report

Beaumont¹,

Godzik²,

Dahiya³

et al. 2015

PED

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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.

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Section: 21 Discussionmentioning

confidence: 99%

“…Approximately 38 cases of SEGA in the absence of clinical features of TSC have been described, 7,10,11,15,[17][18][19]21 with the first case reported by Halmagyi and colleagues in 1979. 7 Bonnin et al reported on 22 cases of SEGA, and only 5 patients among these cases carried a clinical diagnosis of TSC.…”

Section: 21 Discussionmentioning

confidence: 99%

Subependymal giant cell astrocytoma in the absence of tuberous sclerosis complex: case report

Beaumont¹,

Godzik²,

Dahiya³

et al. 2015

PED

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“…A recent study revealed biallelic mutation of TSC1 or TSC2 , leading to mTOR pathway activation in 5/6 SEGAs tested in patients with TSC 21 . Histologically confirmed SEGA alone had historically been considered as sufficient for the definite diagnosis of TSC, 22 and several reported cases of isolated SEGA without any other clinical manifestations were considered to be “forme fruste” of TSC with somatic mosaicism 9–14 . However, most of those cases were reported without molecular analysis for TSC gene mutations or somatic mosaicism.…”

Section: Discussionmentioning

confidence: 99%

“…The reported incidence of SEGA in TSC ranges from 5.8% to 18.5%, 2–7 while radiologically detected subependymal nodules (SENs), which are believed to be the precursor of SEGA, are seen in more than 90% of patients with TSC 5–8 . Although it is controversial whether SEGA occurs outside the setting of TSC, a significant number of cases in which patients with solitary SEGA had no other stigmata of TSC, have been reported 9–14 . According to the revised diagnostic criteria of TSC, 15 these cases are best classified as “possible TSC”.…”

Section: Introductionmentioning

confidence: 99%

“…[5][6][7][8] Although it is controversial whether SEGA occurs outside the setting of TSC, a significant number of cases in which patients with solitary SEGA had no other stigmata of TSC, have been reported. [9][10][11][12][13][14] According to the revised diagnostic criteria of TSC, 15 these cases are best classified as "possible TSC". It is still controversial as to whether these lesions represent a "forme fruste" of TSC.…”

Section: Introductionmentioning

confidence: 99%

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Solitary subependymal giant cell astrocytoma incidentally found at autopsy in an elderly woman without tuberous sclerosis complex

2009

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Subependymal giant cell astrocytoma (SEGA) is a benign, slowly growing tumor typically occurring in the setting of tuberous sclerosis complex (TSC). However there are several reported cases in which patients with a solitary SEGA had no other stigmata of TSC. We describe a case of SEGA in a 75-year-old woman representing the oldest patient reported to-date. The patient had a history of radical vulvectomy for malignant melanoma (MM), and died of autopsy-confirmed widespread systemic metastasis. Postmortem examination of the brain revealed a single 2.1 x 1.0 x 0.8 cm intraventricular nodule in the lateral ventricle. Histologically, it was composed of interlacing bundles of spindle-shaped tumor cells with thin delicate processes admixed with relatively large pleomorphic cells with abundant glassy eosinophilic cytoplasm, as seen in a SEGA. Immunohistochemically, GFAP, S-100 protein, and neuron specific enolase were positive, and synaptophysin labeled a few tumor cells. Also noted were rare isolated MM cells within the tumor (i.e., tumor-to-tumor metastasis). Autopsy showed no manifestations of TSC systemically or intracranially. The histopathological differential diagnosis was limited and included giant cell ependymoma and, much less likely, giant cell glioblastoma and pleomorphic xanthoastrocytoma. This case illustrates that SEGA can be found incidentally in an elderly individual with no associated symptoms and also indicates that SEGA can occur outside the setting of TSC. Tumor metastasis to an occult SEGA is extremely rare.

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