Table 2 Patient molecular screening showing complex dysregulation of the FGFR signalling pathway. FGFR1 FISH was performed by central screening laboratory (Quintiles). FGFR1 and FGFR3 protein levels were assessed by IHC and FGFR1, FGFR3 and FGF-ligand expression assessed by NanoString. Gene variants and copy number gains were determined by next-generation sequencing analysis at Foundation Medicine
From: Complexity of FGFR signalling in metastatic urothelial cancer
FGFR protein H-score | FGFR status (FISH) | FGF pathway RNA expression (NanoString) | Variants detected in tumour | Copy number gain (copy number, exons) |
|---|---|---|---|---|
FGFR1: cytosol 150/membrane 0 | No FGFR1 amplification (FGFR/CEP10 ratio 1.76) | High FGFR1 mRNA expression | FGFR3 (S236N) | MDM2 amplification (16, exons 11 of 11) |
FGFR3: cytosol 10/membrane 1 | High FGFR3 mRNA expression | ARID1A N399fs*218 | MYC amplification (7, exons 5 of 5) | |
High FGF7-ligand mRNA expression | FLT3 A291fs*6 | TBX3 amplification (7, exons 8 of 8) | ||
High FRS2 mRNA expression | CHEK2 T367fs*15 | |||
BRCA2 Q1073R | ||||
FANCD2 Q1405L |