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J Clin Pathol 57:797-801 doi:10.1136/jcp.2003.015800
  • Review

Genetic pathways to melanoma tumorigenesis

Table 1

 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

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