Table 3.

Overview of recurrent alterations found in conventional osteosarcoma

Gene	Type of alteration	Somatic/germline	Function	Frequency in sporadic OS (%)	Literature
TP53	Translocation; deletion; mutation	Germline (Li-Fraumeni syndrome) and somatic	Genome stability; cell cycle control	47–90	[3, 36–38]
RB1	Mutation; deletion	Germline (retinoblastoma) and somatic	Genome stability; cell cycle control	29–47	[3, 37, 38]
MYC	Amplification	Somatic	Cell proliferation	39	[39]
CCNE1	Amplification	Somatic	Cell cycle control	33	[39]
DLG2	Deletion	Somatic	Cell signalling	29–52	[3, 40]
COPS3	Amplification	Somatic	Signal transduction	20–39	[36, 37]
AURKB	Amplification	Somatic	Cell cycle	13	[39]
PTEN	Mutation; deletion; copy number alteration	Somatic	Cell cycle control	12–50	[36–38]
CDKN2A	Deletion	Somatic	Cell cycle control	15	[38]
ATRX	Mutation; deletion	Germline (ATR-X syndrome) and somatic	Genome stability; chromatin remodelling; ALT	10–29	[3, 33, 34, 36–38]
CDKN2A	Mutation; deletion	Somatic	Cell cycle control	10	[36]
CDK4	Amplification	Somatic	Regulates RB activity	9–11	[39, 41]
MDM2	Amplification	Somatic	Regulates P53 activity	5–12	[37, 41]
IGF1R	Mutation; amplification	Somatic	Bone growth and development	5	[36]
AKT	Amplification	Somatic	Cell proliferation; apoptosis	5	[39, 42, 43]
RECQL4	Mutation	Germline (Rothmund-Thomson syndrome)	DNA repair; genome stability	0	[32]
WRN	Mutation	Germline (Werner syndrome)	DNA repair; genome stability	0	[32]
BLM	Mutation	Germline (Bloom syndrome	DNA repair; genome stability	0	[32]