Clinical characteristics of subependymal giant cell astrocytoma in tuberous sclerosis complex

Anna Jansen, Elena A Belousova, Mirjana P. Benedik, Tom Carter, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Lisa D´Amato, Guillaume Beaure d'Augères, Petrus J De Vries, José C. Ferreira, Martha Feucht, Carla Fladrowski, Christoph Hertzberg, Sergiusz Jozwiak, John A Lawson, Alfons Macaya, Ruben Marques, Rima Nabbout, Finbar O'CallaghanJiong Qin, Valentin Sander, Matthias Sauter, Seema Shah, Yukitoshi Takahashi, Renaud Touraine, Sotiris Youroukos, Bernard Zonnenberg, John C. Kingswood, on behalf of the TOSCA Consortium and TOSCA Investigators

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Abstract

Background: This study evaluated the characteristics of subependymal giant cell astrocytoma (SEGA) in patients with tuberous sclerosis complex (TSC) entered into the TuberOus SClerosis registry to increase disease Awareness (TOSCA). Methods: The study was conducted at 170 sites across 31 countries. Data from patients of any age with a documented clinical visit for TSC in the 12 months preceding enrollment or those newly diagnosed with TSC were entered. Results: SEGA were reported in 554 of 2,216 patients (25%). Median age at diagnosis of SEGA was 8 years (range, <1-51), with 18.1% diagnosed after age 18 years. SEGA growth occurred in 22.7% of patients aged ≤ 18 years and in 11.6% of patients aged > 18 years. SEGA were symptomatic in 42.1% of patients. Symptoms included increased seizure frequency (15.8%), behavioural disturbance (11.9%), and regression/loss of cognitive skills (9.9%), in addition to those typically associated with increased intracranial pressure. SEGA were significantly more frequent in patients with TSC2 compared to TSC1 variants (33.7 vs. 13.2 %, p < 0.0001). Main treatment modalities included surgery (59.6%) and mammalian target of rapamycin (mTOR) inhibitors (49%). Conclusions: Although SEGA diagnosis and growth typically occurs during childhood, SEGA can occur and grow in both infants and adults.

Original languageEnglish
Article number705
JournalFrontiers in Neurology
Volume10
Issue numberJUL
DOIs
Publication statusPublished - 1 Jan 2019
Externally publishedYes

Keywords

  • MTOR
  • Registry
  • SEGA
  • TOSCA
  • Tuberous sclerosis complex

Cite this

Jansen, A., Belousova, E. A., Benedik, M. P., Carter, T., Cottin, V., Curatolo, P., Dahlin, M., D´Amato, L., d'Augères, G. B., De Vries, P. J., Ferreira, J. C., Feucht, M., Fladrowski, C., Hertzberg, C., Jozwiak, S., Lawson, J. A., Macaya, A., Marques, R., Nabbout, R., ... on behalf of the TOSCA Consortium and TOSCA Investigators (2019). Clinical characteristics of subependymal giant cell astrocytoma in tuberous sclerosis complex. Frontiers in Neurology, 10(JUL), [705]. https://doi.org/10.3389/fneur.2019.00705