%0 Journal Article
%A Fina, Frédéric
%A Barets, Doriane
%A Colin, Carole
%A Bouvier, Corinne
%A Padovani, Laëtitia
%A Nanni-Metellus, Isabelle
%A Ouafik, L'Houcine
%A Scavarda, Didier
%A Korshunov, Andrey
%A Jones, David
%A Figarella-Branger, Dominique
%T Droplet digital PCR is a powerful technique to demonstrate frequent FGFR1 duplication in dysembryoplastic neuroepithelial tumors.
%J OncoTarget
%V 8
%N 2
%@ 1949-2553
%C [S.l.]
%I Impact Journals LLC
%M DKFZ-2017-00081
%P 2104-2113
%D 2017
%X Dysembryoplastic neuroepithelial tumors (DNT) share V600E mutation in the BRAF gene with other low grade neuroepithelial tumors (LGNTs). FGFR1 internal tandem duplication of the tyrosine-kinase domain (FGFR1-ITD), another genetic alteration that also leads to MAP kinase pathway alteration, has been previously reported in LGNTs by whole-genome sequencing. In the present study we searched for FGFR1-ITD by droplet digital PCR (DDPCR™) and for FGFR1 point mutations by HRM-sequencing in a series of formalin-fixed paraffin-embedded (FFPE) LGNTs including 12 DNT, 2 oligodendrogliomas lacking IDH mutation and 1p/19q co- deletion (pediatric-type oligodendrogliomas; PTOs), 3 pediatric diffuse astrocytomas (PDAs), 14 gangliogliomas (GGs) and 5 pilocytic astrocytomas (PAs). We showed by DDPCR™ that 5/12 DNT, but none of the other LGNTs, demonstrated FGFR1-ITD. In addition, these cases also accumulated phosphorylated-FGFR1 protein as shown by immunohistochemistry. FGFR1G539R point mutation was only recorded in one DNT that also showed FGFR1-ITD. Interestingly, these FGFR1 alterations were mutually exclusive from BRAFV600E mutation that was recorded in 13 LGNTs (3 DNTs, 1 PTO, 2 PDAs, 5 GGs and 2 PAs). Therefore, FGFR1 alteration mainly represented by FGFR1-ITD is a frequent event in DNT. DDPCR™ is an easy and alternative method than whole-genome sequencing to detect FGFR1-ITD in FFPE brain tumors, in routine practice.
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:27791984
%R 10.18632/oncotarget.12881
%U https://inrepo02.dkfz.de/record/119326