Summary of the genetic changes in melanocytic skin lesions
| Aspects | BN | MDN | RGP-CMM | VGP-CMM | Refs |
|---|---|---|---|---|---|
| BN, benign naevi; LOH, loss of heterozygosity; MDN, melanocytic dysplastic naevi; MMR, mismatch repair protien expression; MSI, microsatellite instability; MSI-H, high microsatellite instability; MSI-L, low microsatellite instability; PP, percentage of positive cells RGP-CMM, radial growth phase melanoma; VGP-CMM, vertical growth phase melanoma. | |||||
| LOH at | |||||
| 1p32–36 region | Absent | Present (+) | Present (++) | Present (+++) | 5, 16, 25 |
| Involved loci | – | D1S243, D1S214, D1S228 | D1S228 | D1S243, D1S214, D1S228 | |
| 5q21 | – | – | – | Present (+) | 18 |
| Involved loci | – | – | – | D5S592 | |
| 9p22–24 | Present (+) | Present (++) | Present (+++) | Present (++++) | 5, 20–26 |
| Involved loci | D9S171, IFNA, D9S270 | D9S171, D9S169, D9S126 | IFNA, D9S169 | D9S171, D9S169 | |
| 10q22–24 | – | – | – | Present (+) | 19, 27 |
| Involved loci | – | – | – | D10S520 | |
| 11q22 | – | – | – | 29 | |
| Involved loci | – | – | – | Present (+) | |
| D11S29 | |||||
| MSI | |||||
| Prevalence | Present (+) | Present (++) | Present (+++) | Present (++++) | 29–42 |
| Pattern | MSI-L | MSI-L | MSI-L | MSI-L and MSI-H | |
| MMR protein expression | Present | Reduced | Reduced | Reduced | 6, 43 |
| 8, 44, 45 | |||||
| MMR gene mutations | – | – | Rarely present | Rarely present | |









