Table 3.
Patients clinical and radiological group classification with NF1 and RAS-MAPK screening results
| Patient | Neurodevelopmental disorder | Radiological features | NGS analysis | |
|---|---|---|---|---|
| NF1 mutation: blood/tumor samples | Somatic mutation of the RAS-MAPK pathway | |||
| P1 | Yes | Group 1 | Yes: mosaic | NF1: c.7285C>T, p.Arg2429* |
| P2 | Yes | Group 1 | No/No | BRAF: c.1799T>A, p.Val600Glu |
| P3 | Yes | Group 1 | No/No | BRAF: c.1799T>A, p.Val600Glu |
| P4 | Yes | Group 1 | No/No | No |
| P5 | Yes | Group 1 | No/No | BRAF: c.1799T>A, p.Val600Glu |
| P6 | No | Group 1 | No/No | No |
| P7 | No | Group 1 | No/Not tested | Not tested |
| P8 | No | Group 1 | No/Not tested | Not tested |
| P9 | No | Group 1 | No/Not tested | Not tested |
| P10 | No | Group 1 | No/Not tested | Not tested |
| P11 | No | Group 1 | No/No | KRAS: c.197_203delins13, p.Ala66_Arg68delinsAspCysThrValLeu |
| P12 | No | Group 1 | No/Not tested | Not tested |
| P13 | No | Group 1 | No/No | BRAF: c.1799T>A, p.Val600Glu |
| P14 | No | Group 2 | No/No | BRAF fusion* |
| P15 | No | Group 2 | No/No | BRAF fusion* |
| P16 | No | Group 2 | No/No | BRAF fusion* |
Group 1: tumors spreading at the entire optic pathway, in some cases with major extra-optic component; Group 2: tumors mainly localized at chiasm with slight bilateral changes at the optic radiation fibers.
*Performed with Fluorescence in situ hybridization analysis.