Table 2.
Tumor ID | Clinical Data | ROMA-NF1 Deletions | NF1 Mutations Type | pMAPK (IHC) | p53 (IHC) | TP53Mutations (Exon 3–10) | KRAS Exon 2,3 | BRAFExon 11,15 | |||||
Age | Stage | Grade | Exon | Nucleotide | Codon | Type | |||||||
OSC-1 | 83 | 3C | 3 | homo | Deletion | +++ | + | 8 | G824A | C275Y | Missense | WT | WT |
OSC-2 | 61 | 4 | 3 | hemi | Splicing | ++ | + | 5 | A395G | K132R | Missense | WT | WT |
OSC-3 | 43 | 3C | 3 | WT | - | + | 7 | A701G | Y234C | Missense | WT | WT | |
OSC-4 | 66 | 3C | 3 | WT | - | - | WT | WT | WT | ||||
OSC-5 | 58 | 3B | 2 | hemi | Deletion | +++ | + | 5 | C380T | S127F | Missense | WT | WT |
OSC-6 | 57 | 3C | 2 | WT | ++ | - | WT | WT | WT | ||||
OSC-7 | 44 | 3C | 3 | WT | - | - | WT | WT | WT | ||||
OSC-8 | 57 | 3C | 3 | WT | +++ | + | 5 | A491G | K164E | Missense | WT | WT | |
OSC-9 | 67 | 1C | 3 | WT | +++ | + | 5 | T537G | H179Q | Missense | WT | WT | |
OSC-10 | 53 | 2C | 2 | WT | ND | + | 5 | A395G | K132R | Missense | WT | WT | |
OSC-11 | 60 | 4 | 2 | homo | Deletion | +++ | + | 4 | C215G | P72R | Missense | WT | WT |
OSC-12 | 44 | 3D | 3 | WT | - | + | 9 | G976T | E326stop | Nonsense | WT | WT | |
OSC-13 | 67 | 4 | 1 | WT | - | + | 5 | A395G | K132R | Missense | WT | WT | |
OSC-14 | 40 | 3C | 2 | WT | ++ | - | 5 | C499T | Q167stop | Nonsense | WT | WT | |
OSC-15 | 74 | 3C | 3 | WT | + | - | 5 | C497G | S166stop | Nonsense | WT | WT | |
OSC-16 | 67 | 3C | 3 | WT | ++ | + | 6 | C569T | P190L | Missense | WT | WT | |
OSC-17 | 62 | 3C | 3 | WT | + | - | WT | WT | WT | ||||
OSC-18 | 59 | 1A | 2 | Splicing | +++ | - | 7 | 746delG | 344stop | Frameshift | WT | WT | |
OSC-19 | 52 | 3 | 3 | WT | ND | ND | 7 | C742T | R248W | Missense | WT | WT | |
OSC-20 | 65 | 2 | 3 | WT | +++ | + | 7 | C725T | C242F | Missense | WT | WT | |
OSC-21 | 19 | 4 | 1 | WT | - | - | WT | WT | WT | ||||
OSC-22 | 30 | 4 | 1 | WT | - | - | WT | WT | WT | ||||
OSC-23 | 58 | 3C | 2 | WT | - | - | 8 | C916T | R306Stop | Nonsense | WT | WT | |
OSC-24 | 53 | 3C | 2 | hemi | Deletion/splicing | - | + | 8 | C817G | R273G | Missense | WT | WT |
OSC-25 | 58 | 3C | 3 | hemi | Splicing | +++ | + | 8 | C844T | R282W | Missense | WT | WT |
OSC-26 | 73 | 3C | 2 | WT | - | + | 8 | C844T | R282W | Missense | WT | WT | |
OSC-27 | 41 | 1C | 2 | WT | ND | - | 7 | 689delC | 246stop | Frameshift | WT | WT | |
OSC-28 | 61 | 2C | 1 | WT | - | - | 6 | C637T | R213Stop | Nonsense | WT | WT | |
OSC-29 | 49 | 3C | 1 | WT | ++ | - | WT | G12R | WT | ||||
OSC-30 | 42 | 3C | 3 | WT | +++ | - | WT | WT | WT | ||||
OSC-31 | 50 | 3C | 2 | WT | - | - | WT | WT | WT | ||||
OSC-32 | 54 | 3C | 3 | Splicing | +++ | + | 5 | G517A | V173M | Missense | WT | WT | |
OSC-33 | 60 | 3C | 3 | WT | - | - | 6 | C637T | R213Stop | Nonsense | WT | WT | |
OSC-34 | 61 | 3 | 1 | WT | +++ | - | WT | WT | WT | ||||
OSC-35 | 43 | 3C | 3 | Splicing | +++ | + | 6 | A659G | Y220C | Missense | WT | WT | |
OSC-36 | 56 | 4 | 3 | WT | - | + | 6 | A659G | Y220C | Missense | WT | ND | |
OSC-37 | 48 | 3C | 3 | WT | ++ | + | 6 | T581G | L194R | Missense | WT | WT | |
OSC-38 | 68 | 1A | 3 | WT | - | - | 7 | 689delC | 246stop | Frameshift | WT | WT | |
OSC-39 | 32 | 1B | 1 | WT | ++ | - | WT | WT | WT | ||||
OSC-40 | 68 | 3C | 3 | WT | ++ | - | 5 | 455delC | 169stop | Frameshift | WT | WT | |
OSC-41 | 73 | 3C | 3 | WT | - | + | 8 | G796A | G266R | Missense | WT | WT |