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Clinical characteristics of subependymal giant cell astrocytoma in tuberous sclerosis complex

Jansen, Anna C. ; Belousova, Elena ; Benedik, Mirjana P. ; Carter, Tom ; Cottin, Vincent ; Curatolo, Paolo ; Dahlin, Maria ; D'Amato, Lisa ; D'Augères, Guillaume Beaure and De Vries, Petrus J. , et al. (2019) In Frontiers in Neurology 10(JUL).
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... (More)

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.

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published
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keywords
MTOR, Registry, SEGA, TOSCA, Tuberous sclerosis complex
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Frontiers in Neurology
volume
10
issue
JUL
article number
705
publisher
Frontiers
external identifiers
  • scopus:85069757790
ISSN
1664-2295
DOI
10.3389/fneur.2019.00705
language
English
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yes
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a8baa096-e335-4a89-a78c-b2c83d614c3d
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2019-10-30 01:18:58
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2020-02-12 10:16:42
@article{a8baa096-e335-4a89-a78c-b2c83d614c3d,
  abstract     = {<p>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, &lt;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 &gt; 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 &lt; 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.</p>},
  author       = {Jansen, Anna C. and Belousova, Elena and Benedik, Mirjana P. and Carter, Tom and Cottin, Vincent and Curatolo, Paolo and Dahlin, Maria and D'Amato, Lisa and D'Augères, Guillaume Beaure and De Vries, Petrus J. and Ferreira, José C. and Feucht, Martha and Fladrowski, Carla and Hertzberg, Christoph and Jozwiak, Sergiusz and Lawson, John A. and Macaya, Alfons and Marques, Ruben and Nabbout, Rima and O'Callaghan, Finbar and Qin, Jiong and Sander, Valentin and Sauter, Matthias and Shah, Seema and Takahashi, Yukitoshi and Touraine, Renaud and Youroukos, Sotiris and Zonnenberg, Bernard and Kingswood, John C. and Shinohara, Nobuo and Horie, Shigeo and Kubota, Masaya and Tohyama, Jun and Imai, Katsumi and Kaneda, Mari and Kaneko, Hideo and Uchida, Yasushi and Kirino, Tomoko and Endo, Shoichi and Inoue, Yoshikazu and Uruno, Katsuhisa and Serdaroglu, Ayse and Yapici, Zuhal and Anlar, Banu and Altunbasak, Sakir and Lvova, Olga and Belyaev, Oleg Valeryevich and Agranovich, Oleg and Levitina, Elena Vladislavovna},
  issn         = {1664-2295},
  language     = {eng},
  month        = {01},
  number       = {JUL},
  publisher    = {Frontiers},
  series       = {Frontiers in Neurology},
  title        = {Clinical characteristics of subependymal giant cell astrocytoma in tuberous sclerosis complex},
  url          = {http://dx.doi.org/10.3389/fneur.2019.00705},
  doi          = {10.3389/fneur.2019.00705},
  volume       = {10},
  year         = {2019},
}