A case of subependymal giant cell astrocytoma without tuberous sclerosis complex and review of the literature

O'Rawe, Michael; Chandran, Arjun; Joshi, Stuti; Simonin, Alexandre; Dyke, Jason; Lee, Sharon

doi:10.1007/s00381-020-04823-z

Cited by 11 publications

(5 citation statements)

References 21 publications

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“…Beaumont et al 16 and Konakondla et al 17 described a 14-year-old male and a 25-year-old female, respectively, with SEGAs that both closely resembled our case in terms of radiographic and clinical findings. The youngest reported patient was discussed by O’Rawe et al, 18 who noted a 10-year follow-up with no tumor recurrence or signs of TSC. Finally, Corlette et al 19 discussed a patient with a complete deletion of the TSC2 gene on analysis of the SEGA without constitutional mutation of TSC2, demonstrating the possible role of somatic mosaicism in these cases.…”

Section: Discussionmentioning

confidence: 99%

“… 18 Despite an improved overall outlook with the absence of TSC manifestations, patients with an isolated SEGA still require follow-up for interval growth or recurrence. 18 …”

Section: Discussionmentioning

confidence: 99%

“…The first case was reported by Ichikawa et al in 2005, 15 followed by 5 other cases (Table 2). 7,[16][17][18][19] Tompe et al 7 discussed a case of a 17-year-old male without TSC who had an extraventricular SEGA located in the occipital lobe. Beaumont et al 16 and Konakondla et al 17 described a 14-year-old male and a 25-year-old female, respectively, with SEGAs that both closely resembled our case in terms of radiographic and clinical findings.…”

Section: Discussionmentioning

confidence: 99%

“…12 In contrast, patients with a SEGA in the absence of TSC do not require the same ancillary testing and do not have the same multiorgan complications as patients with TSC. 18 Despite an improved overall outlook with the absence of TSC manifestations, patients with an isolated SEGA still require follow-up for interval growth or recurrence. 18…”

Section: Discussionmentioning

confidence: 99%

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

Shelley

Mahtabfar

Farrell

2023

Journal of Neurosurgery: Case Lessons

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BACKGROUND Subependymal giant cell astrocytoma (SEGA) is a benign intraventricular tumor classically arising near the Foramen of Monro. SEGAs almost always present as a component of tuberous sclerosis complex (TSC), an autosomal dominant disorder characterized by lesions in multiple organs. OBSERVATIONS A 22-year-old female with no past medical history presented with new-onset right-eye pressure, floaters in the right visual field, and pulsatile tinnitus. Imaging revealed an avidly enhancing mass abutting the right Foramen of Monro, causing obstructive hydrocephalus. Following resection, histopathological analysis identified the lesion as a SEGA. However, on further workup, the patient was found to have no genetic or clinical findings of TSC, which exemplifies a rare case of SEGA in the absence of a TSC diagnosis. LESSONS It is essential for physicians to be aware of the possibility of SEGA in the absence of other characteristics of TSC, which has many implications for a patient’s clinical course. The authors present the seventh case of SEGA without genetic or clinical features of TSC described in the literature.

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Section: Discussionmentioning

confidence: 99%

“… 18 Despite an improved overall outlook with the absence of TSC manifestations, patients with an isolated SEGA still require follow-up for interval growth or recurrence. 18 …”

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

See 2 more Smart Citations

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

Shelley

Mahtabfar

Farrell

2023

Journal of Neurosurgery: Case Lessons

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“…Per the 2021 World Health Organization (WHO) Classification of Tumors of the CNS (WHO CNS5), subependymal giant cell astrocytomas (SEGA) are classified as grade 1, benign, non-infiltrative brain lesions [ 5 ]. Although commonly associated with tuberous sclerosis complex (TSC) [ 6 ], occurrences of SEGA without TSC are extremely rare [ 7 ].…”

Section: Introductionmentioning

confidence: 99%

Imaging of supratentorial intraventricular masses in children: a pictorial review—part 2

Goncalves,

Mahecha-Carvajal,

Desa

et al. 2023

Neuroradiology

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Purpose This article is the second in a two-part series aimed at exploring the spectrum of supratentorial intraventricular masses in children. In particular, this part delves into masses originating from cells of the ventricular lining, those within the septum pellucidum, and brain parenchyma cells extending into the ventricles. The aim of this series is to offer a comprehensive understanding of these supratentorial intraventricular masses, encompassing their primary clinical findings and histological definitions. Methods We conducted a review and analysis of relevant epidemiological data, the current genetics/molecular classifications as per the fifth edition of the World Health Organization (WHO) Classification of Tumors of the Central Nervous System (WHO CNS5), and imaging findings. Each supratentorial intraventricular mass was individually evaluated, with a detailed discussion on its clinical and histological features. Results This article covers a range of supratentorial intraventricular masses observed in children. These include colloid cysts, subependymal giant cell astrocytomas, ependymomas, gangliogliomas, myxoid glioneuronal tumors, central neurocytomas, high-grade gliomas, pilocytic astrocytomas, cavernous malformations, and other embryonal tumors. Each mass type is characterized both clinically and histologically, offering an in-depth review of their individual imaging characteristics. Conclusion The WHO CNS5 introduces notable changes, emphasizing the vital importance of molecular diagnostics in classifying pediatric central nervous system tumors. These foundational shifts have significant potential to impact management strategies and, as a result, the outcomes of intraventricular masses in children.

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Tumors and Tumor-Like Lesions

Huang,

Vachha

2024

What Radiology Residents Need to Know

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A case of subependymal giant cell astrocytoma without tuberous sclerosis complex and review of the literature

Cited by 11 publications

References 21 publications

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

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

Imaging of supratentorial intraventricular masses in children: a pictorial review—part 2

Tumors and Tumor-Like Lesions

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