Home > Publications database > Droplet digital PCR is a powerful technique to demonstrate frequent FGFR1 duplication in dysembryoplastic neuroepithelial tumors. > print |
001 | 119326 | ||
005 | 20240228145432.0 | ||
024 | 7 | _ | |a 10.18632/oncotarget.12881 |2 doi |
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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 |
336 | 7 | _ | |a article |2 DRIVER |
336 | 7 | _ | |a Output Types/Journal article |2 DataCite |
336 | 7 | _ | |a Journal Article |b journal |m journal |0 PUB:(DE-HGF)16 |s 1525073712_758 |2 PUB:(DE-HGF) |
336 | 7 | _ | |a ARTICLE |2 BibTeX |
336 | 7 | _ | |a JOURNAL_ARTICLE |2 ORCID |
336 | 7 | _ | |a Journal Article |0 0 |2 EndNote |
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 |b 3 |
700 | 1 | _ | |a Padovani, Laëtitia |b 4 |
700 | 1 | _ | |a Nanni-Metellus, Isabelle |b 5 |
700 | 1 | _ | |a Ouafik, L'Houcine |b 6 |
700 | 1 | _ | |a Scavarda, Didier |b 7 |
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700 | 1 | _ | |a Jones, David |0 P:(DE-He78)551bb92841f634070997aa168d818492 |b 9 |u dkfz |
700 | 1 | _ | |a Figarella-Branger, Dominique |b 10 |
773 | _ | _ | |a 10.18632/oncotarget.12881 |g Vol. 8, no. 2 |0 PERI:(DE-600)2560162-3 |n 2 |p 2104-2113 |t OncoTarget |v 8 |y 2017 |x 1949-2553 |
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