Genetics of Uveal Melanoma and Cutaneous Melanoma: Two of a Kind?

Table 2

Commonest known genetic changes in CM and UM.

CM
	Gene	Mechanism	Location	Cases (%)	Reference
Proto oncogenes	NRAS	mutation	1p13	15–25	[71, 72]
	AKT3	amplification	1q44	40–67	[73]
	BRAF	mutation	7q34	36–61	[74–76]
	NBS1	amplification	8q21	∗	[77]
	MYC	amplification	8q24	1–40	[78–80]
	DDEF1	amplification	8q24	—
	GNAQ	mutation	9p21	83^∗1	[81]
	CCND1	amplification	11q13	6–44	[82–84]
	HDM2	amplification	12q15	—
	BCL-2	amplification	18q21	>90%	[85, 86]
Tumor suppressor genes	LZTS1	deletion	8p21	—
	CDKN2A-sporadic	deletion, mutation	9p21	∗	[87]
	CDKN2A-familial	deletion, mutation	9p21	30–80	[88–91]
	PTEN	deletion, mutation	10q23	10–40	[92–94]
UM
	Gene	Mechanism	Location	Cases (%)	Reference
Proto oncogenes	NRAS	mutation	1p13	∗	[95–98]
	AKT3	amplification	1q44	—
	BRAF	mutation	7q34	48^∗2	[81, 99–101]
	NBS1	amplification	8q21	50	[62, 102]
	MYC	amplification	8q24	43	[103]
	DDEF1	amplification	8q24	50	[63, 69]
	GNAQ	mutation	9p21	46	[81, 104]
	CCND1	amplification	11q13	65	[69, 105–107]
	HDM2	amplification	12q15	97	[69, 105, 106]
	BCL-2	amplification	18q21	100	[105, 108, 109]
Tumor suppressor genes	LZTS1	deletion	8p21	—	[23]
	CDKN2A-sporadic	deletion, mutation	9p21	∗	[110]
	CDKN2A-familial	deletion, mutation	9p21	∗	[110]
	PTEN	deletion, mutation	10q23	15	[111, 112]

— no data available.
^∗Rarely observed or sporadic reports in literature.
^∗1Observed in 83% of blue naevi.
^∗2Observed in 48% of iris melanomas.