Table 2.
FGFR1 positive cases in the study and their detailed mutational status and phospho-ERK IHC results
| Case | Diagnosis | Location | Age | Sex | Tumor | Mutation | Phospho-ERK IHC |
|---|---|---|---|---|---|---|---|
| 3 | DNET | Midline (septum pellucidum) | 27 | male | Primary tumor | FGFR1 full gene duplication | Nuclear |
| 4 | DNET | R, Temporo-frontal | 21 | male | Primary tumor | p.K656D | Nuclear & cytoplasmic |
| 5 | DNET | R, Temporal | 38 | female | Primary tumor | TKD | Nuclear |
| 6 | DNET | R, Temporo-mesial | 42 | male | Primary tumor | p.K656E | Nuclear |
| 7 | DNET | R, Temporo-parietal | 26 | male | Primary tumor | p.N546K | Nuclear (<5% cytoplasmic) |
| 8 | DNET | R, Temporo-mesial | 43 | female | Recurrence | TKD | Nuclear & cytoplasmic |
| 9 | DNET | R, Parietal | 18 | male | Primary tumor | p.K656E+p.K655V | Nuclear |
| 10 | DNET | R, Parietal | 12 | male | Primary tumor | p.K656E+p.E633A+p.D652G+p.A640A | Nuclear & cytoplasmic |
| 11 | DNET | R, Parietal | 12 | male | Recurrence of case 10 | p.K656E+p.E633A+p.D652G+p.A640A | Nuclear |
| 14 | DNET | L, Temporal | 8 | male | Primary tumor | TKD | Nuclear & cytoplasmic |
| 15 | DNET | R, Occipital | 14 | male | Primary tumor | TKD | Nuclear & cytoplasmic |
| 16 | DNET | L, Frontal | 30 | male | Primary tumor | p.K656D | Nuclear & cytoplasmic |
| 18 | DNET | R, Frontal | 6 | male | Primary tumor | TKD | Nuclear & cytoplasmic |
| 19 | DNET | R, Frontal | 18 | female | Recurrence | FGFR1-TACC1 fusion | Nuclear |
| 20 | DNET | L, Temporal | 1mo | female | Primary tumor | FGFR1 breakpoint | Nuclear |
| 23 | DNET | L, Temporal | 13 | male | Primary tumor | FGFR1 breakpoint | Nuclear |
| 26 | DNET-like | R, Temporal | 31 | male | Primary tumor | p.K656E | Nuclear & cytoplasmic |
| 32 | DNET | L, Temporo-mesial | 12 | female | Primary tumor | p.K656E+ p.K655I | Nuclear & cytoplasmic |
| 33 | DNET | L, Temporo-mesial | 17 | female | Recurrence of case 32 | p.K656E+ p.K655I | Nuclear & cytoplasmic |
| 36 | DNET | L, Temporo-mesial | 5 | male | Primary tumor | p.K656D | Nuclear |
| 38 | DNET | R, Temporal | 13 | male | Recurrence | p.N546K | Nuclear & cytoplasmic |
| 40 | DNET-like | N/A | 38 | female | Primary tumor | p.N546K + FGFR1 breakpoint | N/A, high background |
| 42 | DNET-like~ | L, Frontal opperculum | 20 | female | Primary tumor | p.K656E+ p.D652G | N/A, high background |
| 45 | DNET-like | L, Frontal | 3mo | female | Recurrence | TKD | Nuclear & cytoplasmic |
| 50 | DNET | R, Occipital | 1 | female | Primary tumor | TKD | Nuclear & cytoplasmic |
| 51 | DNET | L, Frontal | 4mo | female | Primary tumor | TKD | Nuclear & cytoplasmic |
| 52 | DNET | R, Temporal | 6mo | female | Primary tumor | TKD | Nuclear & cytoplasmic |
| 59 | DNET | R, Parieto-occipital | 1mo | male | Primary tumor | TKD | Nuclear & cytoplasmic |
| 60 | DNET | R, Parieto-occipital | 14 | male | Recurrence of 59 | TKD | Nuclear & cytoplasmic |
| 61 | DNET | L, Frontal | 1mo | female | Primary tumor | TKD | Nuclear & cytoplasmic |
| 62 | DNET | R, Temporo-parietal | 1mo | female | Primary tumor | TKD | Nuclear & cytoplasmic |
| 66 | DNET | R, Parieto-occipital | 1mo | male | Primary tumor | p.K656D | Nuclear & cytoplasmic |
| 68 | DNET-like | Temporal | 17 | male | Primary tumor | p.K656D | Nuclear & cytoplasmic |
| 87 | DNET-like | Temporal | 31 | female | Primary tumor | p.K656E | Nuclear & cytoplasmic |
| 97 | DNET-like | Temporal | 30 | male | Primary tumor | p.N546K | Nuclear & cytoplasmic |
| 98 | DNET-like^ | L, Medial temporal | 13 | female | Primary tumor | p.N546K | Nuclear |
| 100 | DNET-like | Posterior insula, L temporal lobe | 4 | female | Recurrence | p.N546K+ p.K656N | Nuclear & cytoplasmic |
TKD = tyrosine kinase domain
NB: p.K656D can only be achieved by a double mutation c.1966A>G +c.1968G>C.
Aberrant phospho-ERK IHC expression was considered when the protein was expressed both in nucleous and cytoplasm.
~
due to low tumor, a final diagnosis was not achieved. So, to be conservative, it was grouped amongst the DNET-like
^
sample was considered as a possible DNET but, to be conservative, was grouped amongst the DNET-like