Table 1:
Mucosal melanoma mutational studies covered in this review.
| Mucosal Melanoma Site | Number of Patients | Number of Mutations | Region | Detection Method | Reference | |||||
|---|---|---|---|---|---|---|---|---|---|---|
| BRAF | NRAS | NF1 | KIT | SF3B1 | Upper | Lower | ||||
| Whole Genome Sequencing/Whole Exome Sequencing Studies | ||||||||||
| Oral | 65 | 2 | 1 | 5 | 15 | --- | X | WGS | 5 | |
| Oral | 19 | 0 | 1 | 0 | 4 | 0 | X | WES | 20 | |
| Various | 19 | 0 | 1 | 7 | 9 | 8 | X | X | WES | 21 |
| Various | 8 | 0 | 2 | 0 | 2 | 3 | X | X | WGS | 6 |
| Various | 67 | 3 | 11 | 11 | 10 | 8 | X | X | WGS | 7 |
| Various | 10 | 0 | 0 | 1 | 2 | 1 | WGS and WES | 4 | ||
| Various | 2 | 1 | 0 | 0 | 0 | 0 | WES/WGS | 22 | ||
| Various | 8 | 0 | 1 | 1 | 0 | 0 | WES | 23 | ||
| Various | 46 | 0 | 8 | --- | 3 | 9 | WES | 24 | ||
| Targeted Sequencing Studies | ||||||||||
| Anorectal | 15 | 1 | 1 | 3 | 5 | 3 | X | Targeted NGS | 74 | |
| Vulvovaginal | 51 | 6 (5 NA) | 1 (26 NA) | --- | 10 (5 NA) | --- | X | Sanger / NGS | 75 | |
| Vulvovaginal | 20 | --- | --- | --- | 3 (7 NA) | --- | X | Targeted NGS | 76 | |
| Various | 27 | 3 | 6 | X | X | Targeted NGS | 47 | |||
| Various | 71 | 5 | 6 | 13 | 5 | 7 | X | X | Targeted NGS | 77 |
| Various | 43 | 3 | 4 | 6 | 6 | 5 | X | X | Targeted NGS | 32 |
| Various | 45 | 3 | 7 | 8 | 10 | 12 | X | X | Targeted NGS | 78 |
| Various | 41 | 0 | --- | 9 | 4 | --- | Targeted NGS | 79 | ||
| Various | 46 | 2 | 6 | 5 | 3 | --- | Targeted NGS | 49 | ||
| Various | 28 | 2 | 4 | --- | 2 | --- | Targeted NGS | 80 | ||
| Oral | 57 | 0 | 0 | --- | 4 | --- | X | Sanger | 81 | |
| Oral | 139 | --- | --- | --- | 22 | --- | X | Sanger | 60 | |
| Oral | 18 | --- | --- | --- | 4 (3 NA) | --- | X | Sanger | 82 | |
| Sinonasal | 72 | 4 | 8 | --- | 16 | 5 | X | Sanger | 83 | |
| Sinonasal | 32 | 0 | 5 | --- | 4 | --- | X | Sanger | 84 | |
| Sinonasal | 17 | 0 | 3 | --- | 1 | --- | X | Sanger | 85 | |
| Sinonasal | 56 | 2 | 8 | --- | 2 | --- | X | Sanger | 86 | |
| Head and neck | 42 | 2 | 2 | 4 | X | Sanger | 87 | |||
| Head and Neck | 28 | --- | --- | --- | 7 | --- | X | Sanger | 36 | |
| Esophageal | 16 | 1 | 6 | --- | 1 | --- | X | Sanger | 31 | |
| Anorectal | 20 | 0 (1NA) | 1 (1NA | --- | 3 | --- | X | Sanger | 88 | |
| Anorectal | 31 | --- | --- | --- | 11 | --- | X | Sanger | 89 | |
| Vulvar and Vaginal | 65 | 0 (11 NA) | (8 NA) | --- | 7 (11 NA) | --- | X | Sanger | 90 | |
| Vulvovaginal | 24 | 0 | 4 | --- | 1 | --- | X | Sanger | 91 | |
| Vulvovaginal | 24 | 0 | 4 | --- | 4 | --- | X | Sanger | 92 | |
| Vulvovaginal | 16 | 1 | 0 | --- | 0 | --- | X | Sanger | 93 | |
| Various | 86 | 0 (44 NA) | --- | --- | 5 (43 NA) | --- | Sanger | 35 | ||
| Various | 755 | 66 (35 NA) | 20 (200 NA) | --- | 66 | --- | Sanger | 37 | ||
| Various | 71 | 4 | 7 | --- | 7 | --- | Sanger | 30 | ||
| Various | 38 | 1 (2NA) | 2 (4 NA) | --- | 8 | --- | Sanger | 94 | ||
| Various | 55 | 1 | 1 | 3 | --- | Sanger | 95 | |||
| Various | 120 | 13 | 9 | --- | --- | --- | Sanger | 96 | ||
| Various | 167 | --- | --- | --- | 16 | --- | Sanger | 97 | ||
| Various | 39 | 3 (12 NA) | --- | --- | 6 (2 NA) | --- | Sanger | 98 | ||
| Various | 52 | --- | --- | --- | 9 | --- | Sanger | 99 | ||
| Various | 25 | --- | --- | --- | 7 | --- | Sanger | 100 | ||
| Various | 25 | 0 (8 NA) | 1 (8NA) | --- | 4 (8 NA) | --- | Sanger | 101 | ||
| Various | 35 | --- | --- | --- | 3 | --- | Sanger | 102 | ||
| Various | 36 | 1 | 5 | --- | --- | --- | Sanger | 103 | ||
| Various | 13 | 0 | --- | --- | --- | --- | Sanger | 104 | ||
| Various | 25 | 1 | --- | --- | --- | --- | Sanger | 105 | ||
| Various | 31 | --- | --- | --- | 4 | --- | Sanger | 106 | ||
| Various | 22 | 0 | 2 | --- | 4 | --- | Sanger | 107 | ||
| Various | 21 | --- | 1 | --- | --- | --- | Sanger | 108 | ||
| Oral | 14 | 3 | 4 | --- | --- | --- | X | Pyrosequencing | 109 | |
| Various | 62 | 2 (5 NA) | 7 | Pyrosequencing/Sanger | 110 | |||||
| Various | 23 | 0 | 1 | --- | 0 (7 NA) | --- | Pyrosequencing/Sanger | 111 | ||
| Various | 26 | 0 | --- | --- | --- | --- | Pyrosequencing | 112 | ||
| Various | 93 | 8 (1 NA) | 11 (1 NA) | --- | 17 | --- | PCR assay | 34 | ||
| Various | 30 | 1 | 1 | --- | 5 | --- | PCR assay | 113 | ||
| Various | 37 | --- | --- | --- | 16 | --- | PCR assay | 66 | ||
| Various | 5 | --- | --- | --- | 0 | --- | PCR assay | 114 | ||
| Various | 16 | --- | --- | --- | 6 | --- | HRM/sequencing | 115 | ||
| Various | 48 | --- | --- | --- | 8 | --- | HRM/sequencing | 116 | ||
| Various | 45 | 0 | 9 | --- | 7 | --- | DHPLC / Sequencing | 117 | ||
| Various | 706 | 70 | X | ND: from patient database | 2 | |||||
Note: NA = not available, --- = not reported, ND = not determined.