Table 1. Clinical features and key genetic alterations.
| Case no. | Sex | Age | Site | Tumor type | Associations | Key genetic events | MYC amp | CDKN2A loss |
|---|---|---|---|---|---|---|---|---|
| 1 | F | 71 | Trunk | Primary | RTX | GNAQ c.547G>A. R183Q; KRAS c.35G>A, p.G12D; PTPRB c.6409C>T, p.Arg2137* | Present | - |
| 2 | F | 79 | Trunk - left axilla | Primary | RTX | PLCG1 c.2120G>A, p.Arg707Gln; PTPRB c.3085G>T, p.Glu1029*; HRAS c.175G>A, p.A59T | Present | - |
| 3 | F | 46 | Trunk - vulva | Primary | CSD | - | Present | |
| 4 | M | 72 | HN - eyelid | Primary | CSD | BRAF amp; CRKL amp; MAPK1 amp; KDR amp | - | Present |
| 5 | F | 68 | Trunk | Recurrence | RTX | HRAS c.175G>A, p.A59T, FLT4 amp | Present | - |
| 6 | F | 74 | HN - nasal cavity | Primary | - | - | ||
| 7 | M | 84 | HN - right temporal | Recurrence | CSD | RAF1 amp | - | Present |
| 8 | F | 30 | Mediastinum | Primary | BRAF amp, KDR c.2159G>C, p.R720P | - | - | |
| 9 | F | 61 | HN - thyroid | Primary | - | - | ||
| 10 | F | 75 | HN | Primary | CSD | CRKL amp; PTPRB c.5713_5714insT, p.Gln1905fs; KDR amp | - | Present |
| 11 | F | 73 | Lower limb - foot | Primary | CSD | BRAF amp | - | - |
| 12 | F | 49 | Not known (cutaneous) | Not known | CSD | - | - | |
| 13 | F | 77 | HN - left neck | Primary | CRKL amp; MAPK1 amp | - | - | |
| 14 | M | 48 | Lung (primary kidney) | Metastasis | KDR c.2312C>A, p.T771K | - | - | |
| 15 | M | 70 | HN - right supraclavicular | Primary | CRKL amp; MAPK1 amp | - | - | |
| 16 | F | 81 | Liver | Primary | KDR amp | - | - | |
| 17 | M | 42 | Lung (primary unknown) | Metastasis | MAPK1 c.964G>A, p.E322K | - | - | |
| 18 | F | 74 | HN | Primary | CSD | - | Present | |
| 19 | M | 68 | HN - orbicularis oculi | Recurrence | - | Present | ||
| 20 | F | 63 | Lower limb - lateral malleolus | Primary | BRAF amp | - | - | |
| 21 | F | 61 | Adrenal gland | Primary | - | - | ||
| 22 | F | 85 | Lower limb | Primary | PTPRB c.6211C>T, p.Gln2071* | - | - | |
| 23 | F | 44 | Trunk | Primary | RTX | Present | - | |
| 24 | F | 64 | Liver | Primary | KDR amp | Present | - | |
| 25 | M | 42 | Liver (primary spleen) | Metastasis | - | Present | ||
| 26 | F | 79 | HN - cheek | Primary | CSD | HRAS c.182A>T, p.Q61L | - | - |
| 27 | F | 73 | Liver | Primary | - | Present | ||
| 28 | M | 56 | Mediastinum (primary leg) | Metastasis | - | - | ||
| 29 | M | 51 | HN - nose | Primary | NRAS c.182A>G, p.Q61R | - | - | |
| 30 | F | 75 | Trunk | Primary | RTX | NF1 deletion (exon 9 and 10); PTPRB c.3565C>T, p.Gln1189*, FLT4 amp | Present | - |
| 31 | M | 25 | Liver | Primary | NRAS c.182A>T, p.Q61L | - | Present | |
| 32 | M | 74 | HN | Primary | CSD | BRAF c.1799T>A, p.V600E; PTPRB c.4311G>A, p.Trp1437* | - | - |
| 33 | F | 83 | Trunk | Primary | RTX | HRAS c.182A>T, p.Q61L | Present | - |
| 34 | F | 54 | Trunk | Primary | RTX | Present | - |
amp = amplification; F = female; M = male; HN = head & neck region; RTX = radiation therapy; CSD = cumulative sun damage