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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...
| Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6688052/ https://www.ncbi.nlm.nih.gov/pubmed/31428037 http://dx.doi.org/10.3389/fneur.2019.00821 |
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| author | Jansen, Anna C. Belousova, Elena Benedik, Mirjana P. Carter, Tom Cottin, Vincent Curatolo, Paolo D'Amato, Lisa Beaure d'Augères, Guillaume de Vries, Petrus J. Ferreira, José C. Feucht, Martha Fladrowski, Carla Hertzberg, Christoph Jozwiak, Sergiusz Lawson, John A. Macaya, Alfons Marques, Ruben Nabbout, Rima O'Callaghan, Finbar Qin, Jiong Sander, Valentin Sauter, Matthias Shah, Seema Takahashi, Yukitoshi Touraine, Renaud Youroukos, Sotiris Zonnenberg, Bernard Kingswood, John C. |
| author_facet | Jansen, Anna C. Belousova, Elena Benedik, Mirjana P. Carter, Tom Cottin, Vincent Curatolo, Paolo D'Amato, Lisa Beaure d'Augères, Guillaume de Vries, Petrus J. Ferreira, José C. Feucht, Martha Fladrowski, Carla Hertzberg, Christoph Jozwiak, Sergiusz Lawson, John A. Macaya, Alfons Marques, Ruben Nabbout, Rima O'Callaghan, Finbar Qin, Jiong Sander, Valentin Sauter, Matthias Shah, Seema Takahashi, Yukitoshi Touraine, Renaud Youroukos, Sotiris Zonnenberg, Bernard Kingswood, John C. |
| author_sort | Jansen, Anna C. |
| collection | PubMed |
| 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. |
| format | Online Article Text |
| id | pubmed-6688052 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2019 |
| publisher | Frontiers Media S.A. |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-66880522019-08-19 Newly Diagnosed and Growing Subependymal Giant Cell Astrocytoma in Adults With Tuberous Sclerosis Complex: Results From the International TOSCA Study Jansen, Anna C. Belousova, Elena Benedik, Mirjana P. Carter, Tom Cottin, Vincent Curatolo, Paolo D'Amato, Lisa Beaure d'Augères, Guillaume de Vries, Petrus J. Ferreira, José C. Feucht, Martha Fladrowski, Carla Hertzberg, Christoph Jozwiak, Sergiusz Lawson, John A. Macaya, Alfons Marques, Ruben Nabbout, Rima O'Callaghan, Finbar Qin, Jiong Sander, Valentin Sauter, Matthias Shah, Seema Takahashi, Yukitoshi Touraine, Renaud Youroukos, Sotiris Zonnenberg, Bernard Kingswood, John C. Front Neurol Neurology 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. Frontiers Media S.A. 2019-08-02 /pmc/articles/PMC6688052/ /pubmed/31428037 http://dx.doi.org/10.3389/fneur.2019.00821 Text en Copyright © 2019 Jansen, Belousova, Benedik, Carter, Cottin, Curatolo, D'Amato, Beaure d'Augères, de Vries, Ferreira, Feucht, Fladrowski, Hertzberg, Jozwiak, Lawson, Macaya, Marques, Nabbout, O'Callaghan, Qin, Sander, Sauter, Shah, Takahashi, Touraine, Youroukos, Zonnenberg and Kingswood. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
| spellingShingle | Neurology Jansen, Anna C. Belousova, Elena Benedik, Mirjana P. Carter, Tom Cottin, Vincent Curatolo, Paolo D'Amato, Lisa Beaure d'Augères, Guillaume de Vries, Petrus J. Ferreira, José C. Feucht, Martha Fladrowski, Carla Hertzberg, Christoph Jozwiak, Sergiusz Lawson, John A. Macaya, Alfons Marques, Ruben Nabbout, Rima O'Callaghan, Finbar Qin, Jiong Sander, Valentin Sauter, Matthias Shah, Seema Takahashi, Yukitoshi Touraine, Renaud Youroukos, Sotiris Zonnenberg, Bernard Kingswood, John C. Newly Diagnosed and Growing Subependymal Giant Cell Astrocytoma in Adults With Tuberous Sclerosis Complex: Results From the International TOSCA Study |
| title | 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_short | 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 |
| topic | Neurology |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6688052/ https://www.ncbi.nlm.nih.gov/pubmed/31428037 http://dx.doi.org/10.3389/fneur.2019.00821 |
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