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2017 ; 8
(2
): 2104-2113
Nephropedia Template TP
gab.com Text
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English Wikipedia
Droplet digital PCR is a powerful technique to demonstrate frequent FGFR1
duplication in dysembryoplastic neuroepithelial tumors
#MMPMID27791984
Fina F
; Barets D
; Colin C
; Bouvier C
; Padovani L
; Nanni-Metellus I
; Ouafik L
; Scavarda D
; Korshunov A
; Jones DT
; Figarella-Branger D
Oncotarget
2017[Jan]; 8
(2
): 2104-2113
PMID27791984
show ga
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.