IDFGFR1-CNS

IDFGFR1-CNS

The ready-to-use IDFGFR1-CNS kit is a multiplexed and sensitive tool for the detection and quantification by digital PCR (dPCR) of recurrent mutations and tandem duplications in the tyrosine kinase (TKD) domain of FGFR1 (Fibroblast Growth Factor Receptor 1) gene.

The alterations of the FGFR1 gene lead to a constitutive activation of the MAPK pathway in pilocytic astrocytomas. In contrast to FGFR1 amplification, frequently observed in breast, ovary, and lung cancer, FGFR1 fusions and duplications are described in brain tumors, such as glioblastomas and pediatric diffuse astrocytomas, respectively.

In pilocytic astrocytomas, the main described alterations of FGFR1 are point mutations in the tyrosine kinase region, mainly affecting the codons 546 (p.N546K: c.1638 C>A and c.1638 C>A and c.1638 C>G ) and 656 (p.K656E: c.1966 A>G) of the gene. FGFR1 internal tandem duplication (ITD: exon 11 -18) of the tyrosine-kinase domain (FGFR1 – ITD) is another genetic alteration. These somatic mutations lead to MAPK pathway alteration. They have been reported in low-grade neuroepithelial tumors. FGFR1-ITD alteration is a common event in dysembryoplastic neuroepithelial tumors.

This optimized kit provides a multiplex solution allowing, for each sample, to simultaneously amplify, in one PCR reaction, the N546K and K656E mutations, exon 8 (unduplicated reference) and exon 16 (duplication) of the FGFR1 gene (Ref: IDFGFR1-CNS(s)-25).