Table 1.
Summary of clinically significant mutations detected in female genitourinary tract melanoma.
| Sample No | Site | Mutation/loci | Type |
|---|---|---|---|
| 1 | Vulva | KIT (p.K638E/p.K642E) | nonsynonymous |
| 2 | Vulva | BRAF (p.G466V) NF1 (c.2990+1G>T,c.5749+1G>A/c.5812+1G>A) |
Nonsynonymous Truncating |
| 3 | Vulva | ATRX (p.Q732X/p.Q770X) P53 (p.R174X/p.R267X/p.R306X) |
Truncating Truncating |
| 4 | Vagina | ATRX (p.Q732X/p.Q770X) P53 (p.R148K/p.R241K/p.R280K) |
Truncating nonsynonymous |
| 5* | Vagina | KIT (p.W553G/p.W557G | nonsynonymous |
| 6 | Vagina | KIT (p.L572P/p.L576P) | nonsynonymous |
| 7 | Vulva | P53 (p.G113V/p.G206V/p.G245V) | nonsynonymous |
| 8 | Vagina | N/A | |
| 9 | Vagina | ATRX (p.Q251X/p.Q289X) P53 (p.S176N/p.S215N/p.S83N) |
Truncating nonsynonymous |
| 10* | Vulva | NRAS (p.G13D) | nonsynonymous |
| 11 | Vulva | N/A | |
| 12 | Vulva | N/A | |
| 13 | Vulva | BRAF (p.V600E) EZH2(p.Y590H/p.Y602H/p.Y632H/p.Y641H/p.Y646H) |
Nonsynonymous nonsynonymous |
| 14 | Vulva | N/A | |
| 15 | Vulva | EZH2 (p.Y590N/p.Y602N/p.Y632N/p.Y641N/p.Y646N) KIT (p.A529D/p.A533D) NRAS (p.G12S) |
Nonsynonymous Nonsynonymous nonsynonymous |
| 16 | Urethra | BRAF (p.V600E) | nonsynonymous |
*
Samples from same patient.