Article
Identification of TSC1 or TSC2 mutation limited to the tumor in three cases of solitary subependymal giant cell astrocytoma using next-generation sequencing technology.
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery - 1 May 2020
Fohlen Martine, Harzallah Ines, Polivka Marc, Giuliano Fabienne, Pons Linda, Streichenberger Nathalie, Dorfmüller Georg, Touraine Renaud
Abstract excerpt
PURPOSE: Subependymal giant-cell astrocytomas (SEGAs) are low grade intraventricular tumors typically found in patients with tuberous sclerosis complex (TSC). The occurrence of SEGA in non TSC patients is very rare and from a genetic point of view these so-called solitary SEGA are thought to result either from somatic mutations in one of the TSC genes (TSC1 or TSC2) limited to the tumor, or be part of a "forme...
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