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10.18632/oncotarget.12881

http://scihub22266oqcxt.onion/10.18632/oncotarget.12881
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C5356784!5356784 !27791984
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suck abstract from ncbi


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pmid27791984
      Oncotarget 2017 ; 8 (2 ): 2104-2113
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  • 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.
  • |*Gene Duplication [MESH]
  • |Adolescent [MESH]
  • |Astrocytoma/genetics/metabolism/pathology [MESH]
  • |Brain Neoplasms/*genetics/metabolism/pathology [MESH]
  • |Child [MESH]
  • |Child, Preschool [MESH]
  • |DNA Mutational Analysis/*methods [MESH]
  • |Female [MESH]
  • |Ganglioglioma/genetics/metabolism/pathology [MESH]
  • |Gene Frequency [MESH]
  • |Glioma/genetics/metabolism/pathology [MESH]
  • |Humans [MESH]
  • |Immunohistochemistry [MESH]
  • |Infant [MESH]
  • |Infant, Newborn [MESH]
  • |Neoplasms, Neuroepithelial/*genetics/metabolism/pathology [MESH]
  • |Oligodendroglioma/genetics/metabolism/pathology [MESH]
  • |Paraffin Embedding [MESH]
  • |Point Mutation [MESH]
  • |Polymerase Chain Reaction/*methods [MESH]
  • |Receptor, Fibroblast Growth Factor, Type 1/*genetics/metabolism [MESH]


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