Studies of somatic mutations in vulval squamous cell carcinoma that used next generation sequencing
| Study | Year | Number of patients | Diagnosis and HPV status | Sequencing method | Gene | Mutation frequency HPV+ | Mutation frequency HPV− |
| Watkins et al38 | 2017 | 11 | Atypical verruciform lesions | NGS | PI3KA | 73% | |
| ARID2 | 55% | ||||||
| TP53 | 0% | ||||||
| HRAS | 18% | ||||||
| CDKN2A | 0% | ||||||
| 14 | VSCC 14 HPV− | PI3KA | 0% | ||||
| ARID2 | 0% | ||||||
| TP53 | 79% | ||||||
| HRAS | 0% | ||||||
| CDKN2A | 36% | ||||||
| Nooij et al39 | 2017 | 36 | VSCC | NGS | TP53 | 28.6% | 68% |
| 7 HPV+ | NOTCH1 | 0% | 41% | ||||
| 29 HPV− | HRAS | 14% | 31% | ||||
| 63 | dVIN (40) | TP53 | 42% | ||||
| VAAD (7) | NOTCH1 | 28% | |||||
| and LS (16) | HRAS | 20% | |||||
| 19 | HSIL/uVIN | TP53 | 5% | ||||
| NOTCH1 | 14% | ||||||
| HRAS | 14% | ||||||
| Weberpals et al40 | 2017 | 43 | VSCC | NGS | TP53 | 9% | 62% |
| 22 HPV+ | PIK3CA | 27% | 19% | ||||
| 21 HPV− | CDKN2A | 9% | 14% | ||||
| HRAS 1 | 4.6% | 24% | |||||
| PTEN 2 | 9% | 0% | |||||
| FGFR3 | 14% | 4.8% | |||||
| KIT | 18% | 9.5% | |||||
| Han et al41 | 2018 | 15 | VSCC | WES | TP53 | 0% | 56% |
| 9 HPV+ | CDKN2A | 0% | 11% | ||||
| 6 HPV− | HRAS | 0% | 11% | ||||
| FAT1 | 0% | 44% | |||||
| PIK3CA | 33% | 0% | |||||
| BRCA2 | 17% | 11% | |||||
| FBXW7 | 17% | 11% | |||||
| Zieba et al42 | 2018 | 81 | VSCC | NGS | TP53 | 46% | 41% |
| 52 HPV+ | CDKN2A | 25% | 21% | ||||
| 29 HPV− | PIK3CA | 7% | 10% | ||||
| HRAS | 7% | 3% | |||||
| FBXW7 | 3% | 10% |
dVIN, differentiated vulvar intraepithelial neoplasia; HPV, human papilloma virus; HSIL, high-grade squamous intraepithelial lesion; LS, lichen sclerosus; NGS, next generation sequencing; uVIN, usual vulvar intraepithelial neoplasia. VAAD, vulvar acanthosis and altered differentiation; VSCC, vulval squamous cell carcinoma; WES, whole exome sequencing;