Genetic alterations associated with malignant transformation of sporadic vestibular schwannoma.

Aril Løge HåvikOve BrulandHrvoje MileticLars PoulsgaardDavid ScheieKåre FugleholmMorten Lund-JohansenPer-Morten Knappskog

Published in: Acta neurochirurgica (2021)

The VN-MPNST genome in our cases is characterized by large copy-number aberrations and homozygous deletion of CDKN2A. Our study demonstrates a VS with genetic alterations similar to its malignant counterpart, suggesting the existence of premalignant VS. No consistent mutational signature was associated with ionizing radiation.

Keyphrases

copy number
genome wide
mitochondrial dna
dna methylation
late onset
gene expression
amyotrophic lateral sclerosis