Two novel tumours with NTRK2 fusion in the methylation class of extraventricular neurocytomas, including one intraventricular.

Emmanuelle Uro-Coste Arnault Tauziède-EspariatCharlotte DubucsDan Christian ChiforeanuAurore SiegfriedYvan NicaiseLuc BauchetLaurent RiffaudFranck BielleAlexandre VasiljevicRomain AppaySolène EvrardPascale VarletValérie Rigaunull null

Published in: Brain pathology (Zurich, Switzerland) (2023)

We report here about two novel tumours classified as extraventricular neurocytomas (EVN) using DNA-methylation profiling, associated with NTRK2 fusions instead of the usual FGFR1 alterations so far attributed to this tumoural entity. We present the second detailed case of an intraventricular presentation in the MC EVN. Our findings broaden the spectrum of MC EVN and have implications in terms of diagnosis, therapy and terminology.

Keyphrases

dna methylation
genome wide
gene expression
single cell
copy number
cell therapy
bone marrow