Malignant peripheral nerve sheath tumor (MPNST) and MPNST-like entities are defined by a specific DNA methylation profile in pediatric and juvenile population.

Sara PatriziEvelina MieleLorenza FalconeSilvia ValleseSabrina RossiSabina BarresiIsabella GiovannoniLucia PedaceClaudia NardiniIlaria MasierLuana AbballeAntonella CacchioneIda RussoAngela Di GiannataleValentina Di RuscioClaudia Maria SalgadoAngela MastronuzziAndrea CiolfiMarco TartagliaGiuseppe Maria MilanoFranco LocatelliRita Alaggio

Published in: Clinical epigenetics (2024)

DNAm profiling is a useful tool in diagnostic work-up of MPNSTs. Its application in a retrospective series collected during pre-molecular era contributed to classify morphologic mimics. The methylation group MPNST-like is a 'hybrid' category in pediatrics including high-grade and low-grade tumors mainly characterized by TRK alterations.

Keyphrases

nk cells
low grade
high grade
peripheral nerve
dna methylation
genome wide
gene expression
single cell
copy number
single molecule