Table 1.
Case # | Age, Sex | Site | MIS | Thickness | Clark Level | DM Type | NF1 Mutation | ||
---|---|---|---|---|---|---|---|---|---|
| |||||||||
Mutation Type | cDNA | Protein | |||||||
1 | 82M | Scalp | Yes | 1.9 mm | V | Pure | Nonsense | c.3562C>T | p.Q1188* |
| |||||||||
2 | 24M | Arm | Yes | 9.5 mm | V | Pure | Nonsense | c.2875C>T | p.Q959* |
| |||||||||
3 | 85F | Face | Yes | 7.2 mm | V | Pure | Nonsense | c.1555C>T | p.Q519* |
Splicesite | c.7456-1G>A | p.? (splice) | |||||||
| |||||||||
4 | 81F | Shoulder | Yes | 1.5 mm | IV | Pure | Missense | c.2530C>T | p.L844F |
Nonsense | c.2734C>T | p.Q912* | |||||||
| |||||||||
5 | 77F | Face | Yes | 2.5 mm | IV | Pure | Nonsense | c.1105C>T | p.Q369* |
Missense | c.2146G>C | p.E716Q | |||||||
| |||||||||
6 | 66M | Scalp | Yes | 7 mm | V | Pure | Missense | c.6472C>T | p.R2179C |
Nonsense | c.1713G>A | p.W571* | |||||||
Missense | c.3496G>A | p.G1166S | |||||||
| |||||||||
7 | 76M | Scalp | Yes | 1.8 mm | V | Mixed | Missense | c.451A>C | p.N151H |
Missense | c.6782A>T | p.H2261L | |||||||
| |||||||||
8 | 85M | Neck | No | 18 mm | V | Mixed | Nonsense | c.3313A>T | p.K1105* |
Nonsense | c.3826C>T | p.R1276* | |||||||
| |||||||||
9 | 82M | Scalp | Yes | 16 mm | V | Mixed | Splicesite | c.3198-2A>C | p.? (splice) |
| |||||||||
10 | 67M | Face | Yes | 3 mm | IV | Mixed | Nonsense | c.532G>T | p.E178* |
Frameshift | c.1968_1969delCT | p.A656fs | |||||||
| |||||||||
11 | 58M | Shoulder | No | 11.5 mm | V | Mixed | Splicesite | c.1062+1G>A | p.? (splice) |
| |||||||||
12 | 66M | Scalp | Yes | 15 mm | V | Mixed | Splicesite | c.4174-2A>T | p.? (splice) |
| |||||||||
13 | 51M | Chest | Yes | 9.5 mm | V | Mixed | Missense | c.1327T>C | p.F443L |
| |||||||||
14 | 49F | Nose | Yes | 15 mm | V | Mixed | Splicesite | c.1393-1G>A | p.? (splice) |
Nonsense | c.2088G>A | p.W696* | |||||||
| |||||||||
15 | 37F | Trunk | No | 25 mm | V | Pure | - | - | - |
Abbreviations: M = male; F = Female; MIS = melanoma in situ; mm = millimeter; DM = desmoplastic melanoma; NF = neurofibromin