Sporadic vestibular schwannoma: a molecular testing summary.

Katherine V SadlerNaomi L BowersClaire HartleyPhilip T SmithSimon TobiAndrew J WallaceAndrew KingSimon K W LloydScott RutherfordOmar N PathmanabanCharlotte Hammerbeck-WardSimon FreemanEmma StapletonAmy TaylorAdam ShawDorothy HallidayMiriam Jane Smith Dafydd Gareth Evans

Published in: Journal of medical genetics (2020)

Undiagnosed schwannoma predisposition may account for a significant minority of apparently sVS cases, especially at lower presentation ages. Loss of NF2 function is a common event in VS tumours and may represent a targetable common pathway in VS tumourigenesis. These data also support the multi-hit mechanism of LZTR1-associated VS tumourigenesis.

Keyphrases

signaling pathway
electronic health record
late onset
lps induced
big data
oxidative stress
nuclear factor
pi k akt
amyotrophic lateral sclerosis
case report
machine learning
inflammatory response
data analysis
immune response
deep learning