TSC2 somatic mosaic mutation, including extra-tumor tissue, may be the developmental cause of solitary subependymal giant cell astrocytoma.

Tsuyoshi SasakiTakehiro UdaIchiro KukiNoritsugu KunihiroShin OkazakiYo NiidaTakeo Goto

Published in: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery (2021)

The genetic cause of solitary SEGAs may be a TSC2 mutation with LOH. In patients with solitary SEGA, mosaic mutations may present in other organs, and TSC may clinically manifest later in life; therefore, patients should be followed up for prolonged periods.

Keyphrases

giant cell
end stage renal disease
newly diagnosed
ejection fraction
chronic kidney disease
copy number
rare case
peritoneal dialysis
genome wide
dna methylation
patient reported outcomes