Molecular characterisation of sporadic endolymphatic sac tumours and comparison to von Hippel-Lindau disease-related tumours.

Leonille SchweizerFelix ThierfelderChristian ThomasPatrick SoschinskiHee-Yeong KimRuben JödickeNiklas WolteringAlexandra FörsterDaniel TeichmannChristin SiewertKatharina KleinSimone SchmidMaximilian NunningerUlrich-Wilhelm ThomaleJulia OnkenHelmut MühleisenCornelia BrendleMarcos TatagibaAndreas von DeimlingDavid E ReussDavid A SolomonFrank L HeppnerArend KochChristian HartmannOri StaszewskiDavid Capper

Published in: Neuropathology and applied neurobiology (2021)

Biallelic inactivation of VHL is the main mechanism underlying ELSTs, but unknown mechanisms beyond VHL may rarely be involved in the pathogenesis of sporadic ELSTs.

Keyphrases

late onset
amyotrophic lateral sclerosis
intellectual disability
early onset
single molecule
autism spectrum disorder
clinical evaluation