Compendium of Cancer Genome Aberrations

Melanocytic Lesions: Difference between revisions

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<sup>a</sup>May be inconsequential in melanocytic proliferations with Spitzoid morphology; <sup>b</sup>Reported only in mucosal melanomas
<sup>a</sup>May be inconsequential in melanocytic proliferations with Spitzoid morphology; <sup>b</sup>Reported only in mucosal melanomas




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|88
|88
|28
|28
|}
'''Table 5. ''Rates of chromosomal abnormalities detected in primary uveal melanoma associated with high risk of metastasis and aggressive clinical behavior.'''''
{| class="wikitable"
|'''Chromosome'''
|'''Region'''
|'''Abnormality'''
|'''Rate of Abnormality (%)'''
|-
|1
|1p
|loss
|27
|-
|1
|1p36
|loss
|34
|-
|1
|1q
|gain
|11
|-
|3
|whole
|loss
|49
|-
|3
|partial
|loss
|8
|-
|6
|6q
|loss
|22
|-
|8
|whole
|gain
|39
|-
|8
|8p
|loss
|16
|-
|8
|8p
|gain
|13
|-
|8
|8q
|gain
|52
|-
|8
|8q
|isochromosome
|23
|-
|8
|8q24
|gain
|58
|-
|16
|16q
|loss
|25
|-
|3, 8
|3 whole, 8q
|monosomy 3, gain 8q
|43
|}
'''Table 6. Comparison of rates of abnormalities reported in Spitzoid lesions in three or more manuscripts.''' The symbol “ -”designates data not available.
{| class="wikitable"
|'''Region'''
|'''Abnormality'''
|'''Gene Affected'''
|'''Spitz Nevus (%)'''
|'''Spitz Melanocytoma (%)'''
|'''Spitzoid Melanoma (%)'''
|'''Manuscripts'''
|-
|6p25
|gain
|''RREB1''
|3
|9
|54
|13
|-
|6q23
|loss
|''MYB''
|0
|11
|33
|10
|-
|7q
|gain
|''BRAF''
|2
|67
|21
|3
|-
|8q
|gain
|''MYC''
| -
|3
|4
|3
|-
|9p21
|loss
|''CDKN2A''
|2
|18
|39
|21
|-
|11p15
|gain
|''HRAS''
|19
|0
|4
|10
|-
|11q13
|gain
|''CCND1''
|0
|6
|33
|11
|-
|FISH
|at least 1 CNA
|''several''
|14
|18
|70
|25
|-
|CMA
|>3 CNAs
|''many''
|2
|16
|67
|6
|}
'''Table 7. CNAs reported in at least 3 manuscripts in at least 50 cases of primary melanomas and 50 cases of metastases with significant difference in rates (P-values given for differences).''' Individual P-values indicate whether each abnormality is significantly greater than 5%. Rates in bold were the greater of the comparison between primary and metastatic melanomas.
{| class="wikitable"
|'''Region'''
|'''Abnormality'''
|'''Genes'''
|'''Rate Primary (%)'''
|'''P-value (P)'''
|'''Rate Metastasis (%)'''
|'''P-value (M)'''
|'''P-diff'''
|'''N (P)'''
|'''N (M)'''
|-
|3p13
|gain
|''MITF''
|10
|<0.001
|19
|<0.001
|0.009
|255
|214
|-
|5p15
|gain
|''TERT, NKD2''
|28
|<0.001
|12
|0.002
|0.005
|162
|97
|-
|6q
|loss
|''-''
|27
|<0.001
|50
|<0.001
|0.001
|271
|68
|-
|chr7
|polysomy
|''-''
|25
|<0.001
|57
|<0.001
|<0.001
|651
|137
|-
|7p11
|gain
|''EGFR''
|17
|<0.001
|34
|<0.001
|<0.001
|231
|213
|-
|7q31
|gain
|''MET, CAV1''
|32
|<0.001
|17
|<0.001
|<0.001
|348
|195
|-
|7q34
|gain
|''BRAF''
|30
|<0.001
|58
|<0.001
|<0.001
|381
|142
|-
|8q24
|gain
|''MYC''
|33
|<0.001
|21
|<0.001
|0.008
|567
|160
|-
|11q
|loss
|''-''
|24
|<0.001
|40
|<0.001
|0.014
|225
|68
|-
|11q13
|gain
|''CCND1''
|25
|<0.001
|17
|<0.001
|<0.001
|1629
|379
|-
|12q14
|gain
|''CDK4''
|31
|<0.001
|7
|0.408
|<0.001
|322
|129
|-
|19p13
|gain
|''MAP2K2''
|44
|<0.001
|4
|1
|<0.001
|137
|69
|}
'''Table 8. FISH probe sets for analysis of melanocytic lesions with published data included in this study.'''
{| class="wikitable"
|'''Chromosomes'''
|'''Loci'''
|'''Genes'''
|'''Probes'''
|-
|6, 11
|6p25, 6q23, CEP6, 11q13
|''RREB1, MYB, CCND1''
|4
|-
|6, 8, 9, 11
|6p25, 8q24, 9p21, CEP9, 11q13
|''RREB1, MYC, CDKN2A, CCND1''
|5
|-
|6, 9, 11
|6p25, 6q23, CEP6, 9p21, CEP9, 11q13
|''RREB1, MYB, CDKN2A, CCND1''
|6
|-
|6, 8, 9, 11
|6p25, 6q23, CEP6, 8q24, 9p21, 11q13
|''RREB1, MYB, MYC, CDKN2A, CCND1''
|6
|-
|6, 8, 9, 11
|6p25, 6q23, 8q24, 8p11.1, 9p21, 9q21.2, 11q13, 11p15.5
|''RREB1, MYB, MYC, POETA, CDKN2A, GNAQ, CCND1, HRAS''
|8
|}
'''Table 9. Genes classified as other/complex in Table 1.'''
{| class="wikitable"
|'''Gene'''
|'''Function/Potential Role (S11)'''
|'''Gene'''
|'''Function/Potential Role (S12)'''
|-
|''ADAM30''
|Limited functional evidence
|''CALML5''
|Calcium-binding protein
|-
|''BPTF''
|Chromatin remodeler
|''CD274''
|Immune checkpoint regulator
|-
|''CYP24''
|Vitamin D metabolism
|''CDK10''
|Cell-cycle regulator
|-
|''EP300''
|Histone acetyltransferase
|''CHEK1''
|DNA damage kinase
|-
|''KIRREL''
|Limited driver validation
|''ETS1''
|Transcription factor
|-
|''MKL1''
|Transcriptional coactivator
|''IL15RA''
|Immune regulatory receptor
|-
|''NOTCH2''
|Signaling (context-dependent)
|''JAK2''
|Oncogenic kinase
|-
|''PDE11A''
|Phosphodiesterase
|''LARP4B''
|RNA-binding protein
|-
|''PDE4DIP''
|Scaffold protein
|''MYB''
|Canonical oncogene
|-
|''PHIP''
|Implicated in progression
|''NET1''
|RhoA GEF
|-
|''PIK3C2G''
|PIK3 family member
|''PRDM16''
|Transcriptional regulator
|-
|''S100A9-12''
|Inflammatory mediators
|''PRKCQ''
|Signaling kinase
|-
|''SS18L1''
|Transcriptional regulator
|''YAP1''
|Hippo pathway oncogene
|}
|}


==Reference==
==Reference==
Retrieved from "https://content.ccga.io/index.php/Melanocytic_Lesions"