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037 _ _ |a DKFZ-2017-00081
041 _ _ |a eng
082 _ _ |a 610
100 1 _ |a Fina, Frédéric
|b 0
245 _ _ |a Droplet digital PCR is a powerful technique to demonstrate frequent FGFR1 duplication in dysembryoplastic neuroepithelial tumors.
260 _ _ |a [S.l.]
|c 2017
|b Impact Journals LLC
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520 _ _ |a 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.
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700 1 _ |a Barets, Doriane
|b 1
700 1 _ |a Colin, Carole
|b 2
700 1 _ |a Bouvier, Corinne
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700 1 _ |a Padovani, Laëtitia
|b 4
700 1 _ |a Nanni-Metellus, Isabelle
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700 1 _ |a Ouafik, L'Houcine
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700 1 _ |a Scavarda, Didier
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700 1 _ |a Korshunov, Andrey
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700 1 _ |a Jones, David
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700 1 _ |a Figarella-Branger, Dominique
|b 10
773 _ _ |a 10.18632/oncotarget.12881
|g Vol. 8, no. 2
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914 1 _ |y 2017
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