Evidence map›Paper›PMID 37658938›Full record

ReviewChild's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery2024

Isolated subependymal giant cell astrocytoma (SEGA) in the absence of clinical tuberous sclerosis: two case reports and literature review.

Kelsey D Cobourn, Kelsi M Chesney, Kyle Mueller, Islam Fayed, Deki Tsering, Robert F Keating

Abstract readReviewCase Reports
PubMed Publisher
In one paragraph

Review in Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
1.2field-weighted citation impact, top 21% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

5 citing papers in PubMed, 7 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Solitary subependymal giant cell astrocytoma lacking TSC1/2 mutations and TTF-1 expression: A potential diagnostic pitfall.Neuropathology : official journal of the Japanese Society of Neuropathology · 2025
    Article
  5. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors at 1 institution in 1 country.

Kelsey D CobournDepartment of Neurosurgery, Children's National Medical Center, 111 Michigan Avenue NW, Washington, DC, USA.
Kelsi M ChesneyDepartment of Neurosurgery, Children's National Medical Center, 111 Michigan Avenue NW, Washington, DC, USA.
Kyle MuellerDepartment of Neurosurgery, Children's National Medical Center, 111 Michigan Avenue NW, Washington, DC, USA.
Islam FayedDepartment of Neurosurgery, Children's National Medical Center, 111 Michigan Avenue NW, Washington, DC, USA.
Deki TseringDepartment of Neurosurgery, Children's National Medical Center, 111 Michigan Avenue NW, Washington, DC, USA.
Robert F KeatingDepartment of Neurosurgery, Children's National Medical Center, 111 Michigan Avenue NW, Washington, DC, USA. rkeating@cnmc.org.
Children's National · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposeSubependymal giant cell astrocytoma (SEGA) is a WHO grade I pediatric glioma arising in 5-15% of patients with tuberous sclerosis (TSC). Rare cases of isolated SEGA without TSC have been described. The etiology, genetic mechanisms, natural history, and response to treatment of these lesions are currently unknown. We describe two such cases of isolated SEGA with follow-up.

methodsRetrospective review was performed at a single institution to describe the clinical course of pathology-confirmed SEGA in patients with germline testing negative for TSC mutations.

resultsTwo cases of isolated SEGA were identified. Genetic analysis of the tumor specimen was available for one, which revealed an 18 base pair deletion in TSC1. Both cases were managed with surgical resection, one with preoperative embolization. In spite of a gross total resection, one patient experienced recurrence after three years. Treatment with an mTOR inhibitor led to a significant interval reduction of the mass on follow-up MRI. The patient tolerated the medication well for 6 years and is now off of treatment for 2 years with a stable lesion.

conclusionCases of SEGA outside of the context of TSC are exceedingly rare, with only 48 cases previously described. The genetic mechanisms and treatment response of these lesions are poorly understood. To date, these lesions appear to respond well to mTOR inhibitors and may behave similarly to SEGAs associated with TSC. However, given that experience is extremely limited, these cases should be followed long term to better understand their natural history and treatment response.

Indexed as

AstrocytomaBrain NeoplasmsTuberous SclerosisChildHumansMagnetic Resonance ImagingRetrospective StudiesGenetic mosaicismGermline testingmTOR inhibitorsSubependymal giant cell astrocytoma (SEGA)Tuberous sclerosis complex (TSC)

Identifiers

PMID37658938
OpenAlexW4386392743

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.