The Genetics of Osteosarcoma

Table 1

Frequent genetic alterations in sporadic conventional osteosarcoma.

Genomic region	Event	Frequency	Effected genes		References
			Tumour suppressor gene(s)	Oncogene(s)
1q10-q12, 1q21-q31	Amp	6–59%			[50, 55, 77, 82–84]
3q13.31	Del,; LOH	6–80%	LSAMP		[44, 45, 49–55]
5q21	LOH	62%	APC		[109]
6p12-p21	Gain,; Amp	16–75%		RUNX2, CDC5L, VEGFA, PIM1	[9, 20, 45, 49, 65, 77, 78, 82, 89–92]
6p22.3	Gain,; Amp	60%		E2F3	[92]
7p21; 7q31	Del; Amp; Del; Amp	36%; 14%; 41%; 9%		TWIST; MET	[109]
8q24.21	Amp	7–67%		MYC	[20, 45, 49, 55, 71, 78, 81–83]
8q24.4	Mut	<5%	RECQL4		[85]
	Gain	33%	RECQL4		[27]
9p21	Del	5–21%	p16/INK4A,; p14/ARF,; p15/INK4B		[48, 60–63]
10q26	LOH	60%	BUB3,; FGFR2		[106]
12q13	Amp	41%		PRIM1	[58]
12q14	Amp	10%		CDK4	[45, 57]
12q15	Amp	3–25%		MDM2	[47, 48, 57, 72, 73]
13q14.2	LOH	19–67%	RB1		[43–55]
	Mut	25–35%	RB1		[46, 56]
16q23.1-q23.2	Del	30%	WWOX		[107]
17p11.2-p12	Amp	20–78%		COPS3, PMP22, MAPK7	[20, 49, 52, 55, 65, 68, 70, 75–80]
17p13.1	Del,; LOH	29–42%	TP53		[44, 62, 65]
	Mut	10–39%	TP53		[25, 44, 47, 48, 56, 62, 67–71]
18q (MCR 18q21-q23)	Del	31–64%			[44, 53, 110, 114]

MCR, minimal common region; Del, deletion; Amp, amplification; Mut, mutation.