Introduction: Subependymal giant cell astrocytomas (SEGAs) are one of the predominant features of the tuberous sclerosis complex (TSC). Before the use of mTOR inhibitors (mTORi; everolimus and sirolimus) in TSC, many patients had to undergo surgical operations (both preemptively and emergently). However, with mTORis gaining increased use, the role of medical and surgical therapy in SEGA is unclear.
Areas Covered: The authors have based this review on publications listed in PubMed that delve into the role of surgery and mTORi in the treatment of SEGAs.
Expert Opinion: There is no sizable head-to-head comparison of surgery and medical therapy in treating SEGA. Factors that reduce the ability to do these types of studies are the lack of uniform diagnosis of SEGA, provider preference for treatment, and variability in each treatment group (dosing of mTORis and various surgical providers). However, with the safety of mTORi, the authors recommend starting mTORi therapy for any growth in a nodule on serial scans and relying on surgery only for failed mTORi therapy.
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http://dx.doi.org/10.1080/14737175.2025.2472922 | DOI Listing |
Expert Rev Neurother
March 2025
Division of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
Introduction: Subependymal giant cell astrocytomas (SEGAs) are one of the predominant features of the tuberous sclerosis complex (TSC). Before the use of mTOR inhibitors (mTORi; everolimus and sirolimus) in TSC, many patients had to undergo surgical operations (both preemptively and emergently). However, with mTORis gaining increased use, the role of medical and surgical therapy in SEGA is unclear.
View Article and Find Full Text PDFChilds Nerv Syst
March 2025
Department of Neurosurgery, Oslo University Hospital-Rikshospitalet, Oslo, Norway.
Objective: Subependymal giant cell astrocytomas (SEGA) are present in patients with tuberous sclerosis complex (TSC), occasionally requiring surgical removal. The study aimed to analyze the results from our series of children undergoing surgery for SEGA.
Methods: We retrospectively identified children with TSC undergoing resection of SEGA at Oslo University Hospital between 1982 and 2016.
Pediatr Neurol
February 2025
Division of Pediatric Neurology, Department of Pediatrics, Hanim Precision Medicine Center, Severance Children's Hospital, Yonsei University College of Medicine, Seoul, Republic of Korea. Electronic address:
Background: This study aims to investigate the clinical and genetic characteristics of patients with tuberous sclerosis complex (TSC) with subependymal giant cell astrocytomas (SEGAs).
Methods: We conducted a retrospective study involving 263 patients with TSC, comparing clinical histories, genetic variants, and imaging data between patients with and without SEGAs. Additionally, we analyzed brain magnetic resonance imaging (MRI) findings of patients with TSC with SEGAs and evaluated the efficacy of everolimus in reducing SEGA volume.
J Neurol Surg Rep
January 2025
Department of Neurosurgery, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, United States.
Subependymal giant cell astrocytoma (SEGA) is a rare neoplasm arising from subependymal tissue. Predominantly associated with the tuberous sclerosis complex (TSC), SEGA may present with a range of diverse symptoms, most commonly seizures or neurocutaneous features of TSC. We present a novel case of sporadic SEGA in a 59-year-old woman who presented with acute intraparenchymal hemorrhage (IPH).
View Article and Find Full Text PDFBrain
February 2025
Neurological Institute, Cleveland Clinic, Cleveland, OH, USA.
Tuberous sclerosis complex (TSC) is a phenotypically heterogeneous autosomal dominant epilepsy, neuropsychiatric, and tumoral predisposition disease, occurring due to germline variants in the TSC1 or TSC2 genes. Despite an improving understanding of the varied phenotypes TSC may present with, there remains an incomplete understanding of the disease trajectory and genotype-phenotype relationship in this disorder. We sought to examine whether an unbiased clustering approach could uncover subgroups of disease trajectories in TSC and enhance understanding of genotype-phenotype correlation.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!