TABLE 2.

Genetic Alterations Commonly Observed in PAX Gene Fusion–Negative Rhabdomyosarcoma

Alteration	Type	Chromosome Locus	Estimated Frequency	References
IGF2	Loss of heterozygosity	11p15.5	65%	18
NRAS	Point mutation	Chr1:115256530 Chr1:115258745	7.5%	18
KRAS	Point mutation	Chr12:25398284 Chr12:25398281	4%	18
HRAS	Point mutation	Chr11:534289	3%	18
NF1	Point mutation	Multiple	3.4%	18
PIK3CA	Point mutation	Chr3:178952084-178952085 Chr3:178936094-178936096	5.4%	18, 29
FBXW7	Point mutation	Chr4:153247287 Chr4:153249456 Chr4:153251905	4.8%	18
FGFR4	Point mutation	Chr5:176522551	9.3%	30
BCOR	Point mutation/indel	Multiple	5.4%	18
CTNNB1	Point mutation	Chr3:41266101 Chr3:41266124	2%	18, 29
MYOD1	Point mutation	p.Leu122Arg	10% of ERMS	20, 31
MDM2	Amplification	12q15	10%	32
Aneuploidy	Chromosome gain	Typically 2, 7, 8, 11, 13	Common	18
	Chromosome loss	Typically 1p, 9, 16	Common	18

ERMS, embryonal rhabdomyosarcoma; indel, insertion/deletion.