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| Frontiers in neurology. 2019 Aug 2. doi: 10.3389/fneur.2019.00821. pmc: PMC6688052 |
| Newly Diagnosed and Growing Subependymal Giant Cell Astrocytoma in Adults With Tuberous Sclerosis Complex: Results From the International TOSCA Study. |
| Jansen AC1, Belousova E2, Benedik MP3, Carter T4, Cottin V5, Curatolo P6, D'Amato L7, Beaure d'Augères G8, de Vries PJ9, Ferreira JC10, Feucht M11, Fladrowski C12, Hertzberg C13, Jozwiak S14, Lawson JA15, Macaya A16, Marques R17, Nabbout R18, O'Callaghan F19, Qin J20, Sander V21, Sauter M22, Shah S23, Takahashi Y24, Touraine R25, Youroukos S26, Zonnenberg B27, Kingswood JC28 |
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Abstract 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 . Fourteen adults (2.4%) were newly diagnosed with SEGA during follow-up, and majority had mutations in . Our findings suggest that surveillance for new or growing SEGA is warranted also in adulthood, particularly in patients with mutations in . |
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KEYWORDS: SEGA, TOSCA, mTOR, registry, tuberous sclerosis complex |
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Publikations ID: 31428037 Quelle: öffnen |
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