Table 1. Clinical characteristics of patients with rare Braf mutations.
| Patient No. | Primary melanoma (SSM/NM) | Gender | Age | Braf mutation | According to HGVS-approved nomenclaturea | Survival in months from stage IV disease (months) | Treatment with kinase inhibitor (vem=vemurafenib/sor=sorafenib/none; response) |
|---|---|---|---|---|---|---|---|
| 1 |
uk |
M |
70 |
V600K |
c.1798_1799GT>AA |
uk |
uk |
| 2 |
NM; 4 mm |
M |
47 |
V600EK601del |
c.[1799_1800TG>AA(;)1801_1803delAAA] |
18 |
No vemb; sor: PD |
| 3 |
Unknown primary |
M |
17 |
V600D |
c.1799_1800TG>AT |
17 |
None |
| 4 |
uk |
M |
75 |
V600G |
c.1799T>G |
5 |
None |
| 5 |
SSM; 1.2 mm |
F |
42 |
V600K |
c.1798_1799GT>AA |
1+ |
None |
| 6 |
NM |
F |
81 |
V600K |
c.1798_1799GT>AA |
uk |
uk |
| 7 |
SSM; 0.85 mm |
M |
57 |
L597S |
c.1789_1790CT>TC |
9 |
No vemb; no sor |
| 8 |
NM; 1.6 mm |
M |
68 |
V600E2 (GAA) |
c.1799_1800TG>AA |
23 |
No vem; sor+temozolomide: SD−PD |
| 9 |
Unknown primary |
F |
37 |
V600DK601del |
c.[1799_1800TG>AT(;)1801_1803delAAA] |
17 |
No vem; sor: PD |
| 10 |
NM; ulcerated; 8 mm |
M |
65 |
V600R |
c.1798_1799GT>AG |
28 |
No vem; sor+temozolomide: PR |
| 11 |
Secondary NM; ulcerated; 5.5 mm |
M |
56 |
V600K |
c.1798_1799GT>AA |
23 |
No vem; sor: PD |
| 12 |
NM; 3.5 mm |
F |
68 |
V600K |
c.1798_1799GT>AA |
3 |
No vem; sor: PD |
| 13 |
NM; 10 mm |
M |
37 |
V600K |
c.1798_1799GT>AA |
22 |
No vem; sor: PD |
| 14 | Unknown primary | F | 43 | V600E2 (GAA) | c.1799_1800TG>AA | 16 | No vem; sor: PD |
Abbreviations: SSM= superficial spreading melanoma; NM=nodular melanoma; NA=not applicable; uk=unknown; PD=progressive disease; SD=stable disease.
a
HGVS: Human Genome Variation Society (http://www.hgvs.org/mutnomen).
b
Due to detection of wildtype at study facility.