Newly Diagnosed and Growing Subependymal Giant Cell Astrocytoma in Adults With Tuberous Sclerosis Complex: Results From the International TOSCA Study
The onset and growth of subependymal giant cell astrocytoma (SEGA) in tuberous sclerosis complex (TSC) typically occurs in childhood. There is minimal information on SEGA evolution in adults with TSC. Of 2,211 patients enrolled in TOSCA, 220 of the 803 adults (27.4%) ever had a SEGA. Of 186 patients...
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Frontiers Media S.A.
2019-08-01
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Series: | Frontiers in Neurology |
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Online Access: | https://www.frontiersin.org/article/10.3389/fneur.2019.00821/full |
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Article |
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DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Anna C. Jansen Elena Belousova Mirjana P. Benedik Tom Carter Vincent Cottin Paolo Curatolo Lisa D'Amato Guillaume Beaure d'Augères Petrus J. de Vries José C. Ferreira Martha Feucht Carla Fladrowski Carla Fladrowski Christoph Hertzberg Sergiusz Jozwiak Sergiusz Jozwiak John A. Lawson Alfons Macaya Ruben Marques Ruben Marques Rima Nabbout Finbar O'Callaghan Jiong Qin Valentin Sander Matthias Sauter Seema Shah Yukitoshi Takahashi Renaud Touraine Sotiris Youroukos Bernard Zonnenberg John C. Kingswood |
spellingShingle |
Anna C. Jansen Elena Belousova Mirjana P. Benedik Tom Carter Vincent Cottin Paolo Curatolo Lisa D'Amato Guillaume Beaure d'Augères Petrus J. de Vries José C. Ferreira Martha Feucht Carla Fladrowski Carla Fladrowski Christoph Hertzberg Sergiusz Jozwiak Sergiusz Jozwiak John A. Lawson Alfons Macaya Ruben Marques Ruben Marques Rima Nabbout Finbar O'Callaghan Jiong Qin Valentin Sander Matthias Sauter Seema Shah Yukitoshi Takahashi Renaud Touraine Sotiris Youroukos Bernard Zonnenberg John C. Kingswood Newly Diagnosed and Growing Subependymal Giant Cell Astrocytoma in Adults With Tuberous Sclerosis Complex: Results From the International TOSCA Study Frontiers in Neurology mTOR registry SEGA TOSCA tuberous sclerosis complex |
author_facet |
Anna C. Jansen Elena Belousova Mirjana P. Benedik Tom Carter Vincent Cottin Paolo Curatolo Lisa D'Amato Guillaume Beaure d'Augères Petrus J. de Vries José C. Ferreira Martha Feucht Carla Fladrowski Carla Fladrowski Christoph Hertzberg Sergiusz Jozwiak Sergiusz Jozwiak John A. Lawson Alfons Macaya Ruben Marques Ruben Marques Rima Nabbout Finbar O'Callaghan Jiong Qin Valentin Sander Matthias Sauter Seema Shah Yukitoshi Takahashi Renaud Touraine Sotiris Youroukos Bernard Zonnenberg John C. Kingswood |
author_sort |
Anna C. Jansen |
title |
Newly Diagnosed and Growing Subependymal Giant Cell Astrocytoma in Adults With Tuberous Sclerosis Complex: Results From the International TOSCA Study |
title_short |
Newly Diagnosed and Growing Subependymal Giant Cell Astrocytoma in Adults With Tuberous Sclerosis Complex: Results From the International TOSCA Study |
title_full |
Newly Diagnosed and Growing Subependymal Giant Cell Astrocytoma in Adults With Tuberous Sclerosis Complex: Results From the International TOSCA Study |
title_fullStr |
Newly Diagnosed and Growing Subependymal Giant Cell Astrocytoma in Adults With Tuberous Sclerosis Complex: Results From the International TOSCA Study |
title_full_unstemmed |
Newly Diagnosed and Growing Subependymal Giant Cell Astrocytoma in Adults With Tuberous Sclerosis Complex: Results From the International TOSCA Study |
title_sort |
newly diagnosed and growing subependymal giant cell astrocytoma in adults with tuberous sclerosis complex: results from the international tosca study |
publisher |
Frontiers Media S.A. |
series |
Frontiers in Neurology |
issn |
1664-2295 |
publishDate |
2019-08-01 |
description |
The onset and growth of subependymal giant cell astrocytoma (SEGA) in tuberous sclerosis complex (TSC) typically occurs in childhood. There is minimal information on SEGA evolution in adults with TSC. Of 2,211 patients enrolled in TOSCA, 220 of the 803 adults (27.4%) ever had a SEGA. Of 186 patients with SEGA still ongoing in adulthood, 153 (82.3%) remained asymptomatic, and 33 (17.7%) were reported to ever have developed symptoms related to SEGA growth. SEGA growth since the previous scan was reported in 39 of the 186 adults (21%) with ongoing SEGA. All but one patient with growing SEGA had mutations in TSC2. Fourteen adults (2.4%) were newly diagnosed with SEGA during follow-up, and majority had mutations in TSC2. Our findings suggest that surveillance for new or growing SEGA is warranted also in adulthood, particularly in patients with mutations in TSC2. |
topic |
mTOR registry SEGA TOSCA tuberous sclerosis complex |
url |
https://www.frontiersin.org/article/10.3389/fneur.2019.00821/full |
work_keys_str_mv |
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doaj-6cd6d6738ff746e5a7caa95f5393bb652020-11-25T02:13:37ZengFrontiers Media S.A.Frontiers in Neurology1664-22952019-08-011010.3389/fneur.2019.00821464502Newly Diagnosed and Growing Subependymal Giant Cell Astrocytoma in Adults With Tuberous Sclerosis Complex: Results From the International TOSCA StudyAnna C. Jansen0Elena Belousova1Mirjana P. Benedik2Tom Carter3Vincent Cottin4Paolo Curatolo5Lisa D'Amato6Guillaume Beaure d'Augères7Petrus J. de Vries8José C. Ferreira9Martha Feucht10Carla Fladrowski11Carla Fladrowski12Christoph Hertzberg13Sergiusz Jozwiak14Sergiusz Jozwiak15John A. Lawson16Alfons Macaya17Ruben Marques18Ruben Marques19Rima Nabbout20Finbar O'Callaghan21Jiong Qin22Valentin Sander23Matthias Sauter24Seema Shah25Yukitoshi Takahashi26Renaud Touraine27Sotiris Youroukos28Bernard Zonnenberg29John C. Kingswood30Pediatric Neurology Unit, Department of Pediatrics, UZ Brussel VUB, Brussels, BelgiumResearch and Clinical Institute of Pediatrics, Pirogov Russian National Research Medical University, Moscow, RussiaChild Neurology Department, SPS Pediatrična Klinika, Ljubljana, SloveniaTuberous Sclerosis Association (TSA), Nottingham, United KingdomHôpital Louis Pradel, Claude Bernard University Lyon 1, Lyon, FranceChild Neurology and Psychiatry Unit, Systems Medicine Department, Tor Vergata University Hospital, Rome, ItalyNovartis Farma S.p.A., Origgio, ItalyAssociation Sclérose Tubéreuse de Bourneville, Gradignan, FranceDivision of Child and Adolescent Psychiatry, University of Cape Town, Cape Town, South Africa0Neurology Department, Centro Hospitalar Lisboa Ocidental, Lisbon, Portugal1Medical University of Vienna, Universitätsklinik für Kinder-und Jugendheilkunde, Vienna, Austria2Associazione Sclerosi Tuberosa ONLUS, Milan, Italy3European Tuberous Sclerosis Complex Association, Dattein, Germany4Zentrum für Neuropädiatrie und Sozialpädiatrie, Vivantes-Klinikum Neukölln, Berlin, Germany5Department of Child Neurology, Warsaw Medical University, Warsaw, Poland6Department of Neurology and Epileptology, The Children's Memorial Health Institute, Warsaw, Poland7The Tuberous Sclerosis Multidisciplinary Management Clinic, Sydney Children's Hospital, Randwick, NSW, Australia8Pediatric Neurology Section, Hospital Universitari Vall d'Hebron, Barcelona, SpainNovartis Farma S.p.A., Origgio, Italy9Institute of Biomedicine (IBIOMED), University of Leon, León, Spain0Department of Pediatric Neurology, Necker Enfants Malades Hospital, Paris Descartes University, Paris, France1Paediatric Neuroscience, Institute of Child Health, University College London, London, United Kingdom2Department of Pediatrics, Peking University People's Hospital, Beijing, China3Neurology and Rehabilitation, Tallinn Children Hospital, Tallinn, Estonia4Klinikum Kempten, Klinikverbund Kempten-Oberallgäu gGmbH, Kempten, Germany5Novartis Healthcare Pvt Ltd., Hyderabad, India6National Epilepsy Center, Shizuoka Institute of Epilepsy and Neurological Disorders, NHO, Aoi-ku, Japan7Department of Genetics, CHU-Hôpital Nord, Saint Etienne, France8First Department of Paediatrics, Athens University, St. Sophia Children's Hospital, Athens, Greece9Department of Internal Medicine, University Medical Center, Utrecht, Netherlands0Cardiology Clinical Academic Group, Molecular and Clinical Sciences Research Centre, St. Georges University of London, London, United KingdomThe onset and growth of subependymal giant cell astrocytoma (SEGA) in tuberous sclerosis complex (TSC) typically occurs in childhood. There is minimal information on SEGA evolution in adults with TSC. Of 2,211 patients enrolled in TOSCA, 220 of the 803 adults (27.4%) ever had a SEGA. Of 186 patients with SEGA still ongoing in adulthood, 153 (82.3%) remained asymptomatic, and 33 (17.7%) were reported to ever have developed symptoms related to SEGA growth. SEGA growth since the previous scan was reported in 39 of the 186 adults (21%) with ongoing SEGA. All but one patient with growing SEGA had mutations in TSC2. Fourteen adults (2.4%) were newly diagnosed with SEGA during follow-up, and majority had mutations in TSC2. Our findings suggest that surveillance for new or growing SEGA is warranted also in adulthood, particularly in patients with mutations in TSC2.https://www.frontiersin.org/article/10.3389/fneur.2019.00821/fullmTORregistrySEGATOSCAtuberous sclerosis complex |