Table 2.
CASE | BRAF | NRAS | CKIT | PPP6C | STK19 | RAC1 | LOCAL | SUBTYPE | BRESLOW | CLARK | type of nevus |
---|---|---|---|---|---|---|---|---|---|---|---|
1 | WT A,B,* | WT A,B,# | WT A,B | WT A,B | WT A,B | WT A,B | HEAD | N/S | 0.7 | III | N/A |
2 | V600E A,B,* | WT A,B | WT A,B | WT A,B | WT A,B | WT A,B | TRUNK | N/S | 1.25 | III | N/A |
3 | V600E A,B,* | WT A,B | WT A,B | WT A,B | WT A,B | WT A,B | TRUNK | N/S | IS | I | N/A |
4 | WT A,B,* | WTA,#,Q61KB,# | WT A,B | WT A,B | WT A,B | WT A,B | HEAD | SSM | 0.45 | III | N/A |
5 | WT A,B,* | WT A,B | WT A,B | WT A,B | WT A,B | WT A,B | EXT | N/S | IS | I | N/A |
6 | N/AA,V600EB,* | N/AA,WTB | N/AA,WTB | N/AA,WTB | N/AA,WTB | N/AA,WTB | EXT | NM | 2.5 | III | junctional |
7 | V600EA,WTB | WT A,B,# | WT A,B | WT A,B | WT A,B | WT A,B | TRUNK | N/S | IS | I | N/A |
8 | WT A,B* | WT A,B,# | WT A,B | WT A,B | WT A,B | WT A,B | TRUNK | N/S | IS | I | N/A |
9 | WT A,B* | WT A,B,# | WT A,B | WT A,B | WT A,B | WT A,B | TRUNK | N/S | IS | I | junctional |
10 | WT A,B* | WT A,B,# | WT A,B | WT A,B | WT A,B | WT A,B | N/A | SSM | 0.8 | III | N/A |
11 | WT A,B* | WT A,B,# | WT A,B | WT A,B | WT A,B | WT A,B | TRUNK | N/S | IS | I | compound |
12 | WT A,B* | WT A,B | WT A,B | WT A,B | WT A,B | WT A,B | TRUNK | SSM | 1.15 | III | N/A |
13 | WT A,B* | WT A,B,# | WT A,B | WT A,B | WT A,B | WT A,B | TRUNK | N/S | IS | I | compound |
14 | WTA,V600EB* | WT A,B,# | WT A,B | WT A,B | WT A,B | WT A,B | N/A | SSM | 0.4 | II | junctional |
15 | V600E A,B* | WT A,B,# | WT A,B | WT A,B | WT A,B | WT A,B | TRUNK | SSM | 0.4 | II | N/A |
16 | V600E A,B* | Q61KA,#, WTB,# | WT A,B | WT A,B | WT A,B | WT A,B | TRUNK | SSM | 0.5 | II | compound |
17 | V600E A,B* | WT A,B,# | WT A,B | WT A,B | WT A,B | WT A,B | EXT | SSM | 0.35 | II | N/A |
18 | WT A,B* | WT A,B,# | WT A,B | WT A,B | WT A,B | WT A,B | TRUNK | SSM | 0.75 | III | compound |
19 | V600E A,B* | WT A,B | WT A,B | WT A,B | WT A,B | WT A,B | TRUNK | N/S | IS | I | intradermal |
20 | WT A,B* | WT A,B | WT A,B | WT A,B | WT A,B | WT A,B | TRUNK | SSM | 0.7 | III | compound |
21 | WT A,B* | WT A,B | WT A,B | WT A,B | WT A,B | WT A,B | TRUNK | N/S | IS | I | compound |
22 | WT A,B* | WT A,B | WT A,B | WT A,B | WT A,B | WT A,B | EXT | N/S | IS | I | junctional |
23 | V600E A,B* | WT A,B,# | WT A,B | WT A,B | WT A,B | WT A,B | EXT | N/S | IS | I | congenital |
24 | V600E A,B* | WTA,#,Q61KB,# | WT A,B | WT A,B | WT A,B | WT A,B | EXT | N/S | IS | I | junctional |
25 | V600E A,B* | WT A,B,# | WT A,B | WT A,B | WT A,B | WT A,B | N/A | SSM | 0.45 | II | junctional |
26 | V600EA,WTB | WT A,B,# | WT A,B | WT A,B | WT A,B | WT A,B | TRUNK | SSM | 0.5 | II | compound |
27 | V600EA*,WTB* | WT A,B,# | WT A,B | WT A,B | WT A,B | WT A,B | EXT | N/S | IS | I | N/A |
28 | WTA*,V600EB* | WT A,B | WT A,B | WT A,B | WT A,B | WT A,B | N/A | N/S | IS | I | N/A |
29 | V600EA*,WTB* | WT A,B,# | WT A,B | WT A,B | WT A,B | WT A,B | TRUNK | SSM | IS | I | N/A |
30 | WTA*,V600EB* | WTA,#,Q61KB,# | WT A,B | WT A,B | WT A,B | WT A,B | TRUNK | SSM | 0.5 | II | N/A |
31 | WT A,B* | WT A,B,# | WT A,B | WT A,B | WT A,B | WT A,B | TRUNK | SSM | IS | I | compound |
32 | WTA*,V600EB* | WTA,#,Q61KB,# | WT A,B | WT A,B | WT A,B | WT A,B | EXT | SSM | IS | I | N/A |
33 | WT A,B* | Q61K A,B,# | WT A,B | WT A,B | WT A,B | WT A,B | TRUNK | N/S | IS | I | compound |
34 | V600E A,B* | WT A,B | WT A,B | WT A,B | WT A,B | WT A,B | EXT | SSM | 0.45 | II | compound |
35 | V600E A,B* | Q61K A,B,# | WT A,B | WT A,B | WT A,B | WT A,B | EXT | SSM | 0.5 | III | N/A |
36 | WT A,B* | WT A,B,# | WT A,B | WT A,B | WT A,B | WT A,B | N/A | N/A | N/A | N/A | N/A |
37 | V600E A,B* | WT A,B,# | WT A,B | WT A,B | WT A,B | WT A,B | TRUNK | SSM | 0.52 | III | N/A |
38 | V600EA*,WTB* | WT A,B,# | WT A,B | WT A,B | WT A,B | WT A,B | TRUNK | SSM | 0.6 | III | N/A |
39 | V600E A,B* | WT A,B,# | WT A,B | WT A,B | WT A,B | WT A,B | TRUNK | SSM | IS | I | N/A |
40 | WT A,B* | WT A,B,# | WT A,B | WT A,B | WT A,B | WT A,B | TRUNK | SSM | 1.01 | IV | N/A |
41 | V600E A,B* | WT A,B,# | WT A,B | WT A,B | WT A,B | WT A,B | TRUNK | SSM | 0.8 | III | congenital |
42 | V600EA*,WTB* | WTA,#,Q61KB,# | WT A,B | WT A,B | WT A,B | WT A,B | TRUNK | SSM | 0.7 | III | N/A |
43 | WT A,B* | WT A,B,# | WT A,B | WT A,B | WT A,B | WT A,B | TRUNK | SSM | 0.5 | III | N/A |
44 | V600EA*,WTB* | WT A,B,# | WT A,B | WT A,B | WT A,B | WT A,B | N/A | SSM | 0.7 | IV | N/A |
45 | WT A,B* | WTA,#,Q61KB,# | WT A,B | WT A,B | WT A,B | WT A,B | TRUNK | SSM | IS | I | congenital |
46 | WT A,B* | WT A,B,# | WT A,B | WT A,B | WT A,B | WT A,B | EXT | SSM | 0.3 | II | N/A |
47 | V600EA*,WTB* | Q70H/Q61K A,#, Q61KB,# | WT A,B | WT A,B | WT A,B | WT A,B | TRUNK | SSM | 0.9 | III | N/A |
48 | WTA*,V600EB* | WT A,B,# | WT A,B | WT A,B | WT A,B | WT A,B | TRUNK | SSM | 0.8 | III | congenital |
49 | WT A,B* | WT A,B,# | WT A,B | WT A,B | WT A,B | WT A,B | EXT | SSM | 1.2 | IV | intradermal |
50 | V600E A,B* | WT A,B,# | WT A,B | WT A,B | WT A,B | WT A,B | ACRAL | ACRAL LENTIGINOUS | 1.3 | IV | intradermal |
51 | WT A,B* | WT A,B | WT A,B | WT A,B | WT A,B | WT A,B | TRUNK | SSM | 1.2 | IV | N/A |
52 | WT A,B* | Q61K A,B,# | WT A,B | WT A,B | WT A,B | WT A,B | TRUNK | SSM | 0.5 | II | N/A |
53 | V600E A,B* | WT A,B,# | WT A,B | WT A,B | WT A,B | WT A,B | N/A | SSM | 0.85 | III | N/A |
54 | V600E A,B* | WT A,B,# | WT A,B | WT A,B | WT A,B | WT A,B | TRUNK | SSM | 0.6 | III | congenital |
55 | V600E A,B* | WT A,B,# | WT A,B | WT A,B | WT A,B | WT A,B | EXT | SSM | 1 | III | N/A |
56 | V600E A,B* | Q61KA,#, WTB,# | WT A,B | WT A,B | WT A,B | WT A,B | TRUNK | SSM | 1.4 | III | N/A |
57 | V600E A,B* | WT A,B,# | WT A,B | WT A,B | WT A,B | WT A,B | N/A | SSM | 0.55 | I | N/A |
58 | WT A,B* | WT A,B,# | WT A,B | WT A,B | WT A,B | WT A,B | EXT | SSM | 0.5 | II | N/A |
59 | V600E A,B* | WT A,B,# | WT A,B | WT A,B | WT A,B | WT A,B | EXT | N/A | N/A | N/A | N/A |
60 | V600E A,B* | WT A,B,# | WT A,B | WT A,B | WT A,B | WT A,B | TRUNK | SSM | 1.2 | IV | congenital |
61 | V600E A,B* | D33D/Q61KA,#, WTB,# | WT A,B | WT A,B | WT A,B | WT A,B | ACRAL | N/S | IS | I | N/A |
N/A: not available; N/S: not specified
Nevus result;
Melanoma result; EXT: extremities; SSM: superficial spreading melanoma; IS: in situ melanoma;
Result determined by Sanger sequencing and V600E allele-specific fluorescent PCR;
Result determined by Sanger sequencing and SNaPshot method.