Table 2.

Summary of identified mutations in RMS (n = 89)

Sample IDHistologyGene mutation
R60ERMSBRAF_1799T>A (V600E)
R11ERMSCTNNB1_121A>G (T41A), NRAS_181C>A (Q61K)
R7ERMSCTNNB1_134C>A (S45Y)
R13ERMSFGFR4_1648G>C (V550L)
R31 (RMS559 cell line)ERMSFGFR4_1648G>C (V550L)
R36ERMSFGFR4_1648G>C (V550L)
R6ERMSFGFR4_1648G>C (V550L)
R51 (SMS-CTR cell line)ERMSHRAS_181C>A (Q61K)
R61ERMSKRAS_34G>T (G12C)
R50ERMSKRAS_35G>A (G12D)
R71ARMSKRAS_38G>A (G13D)
R44ERMSNRAS_181C>A (Q61K)
R29ERMSNRAS_181C>A (Q61K)
R35 (RD cell line)ERMSNRAS_183A>T (Q61H)
R1ERMSPIK3CA_1624G>A (E542K)
R43ERMSPIK3CA_1633G>A (E545K)
R48ERMSPIK3CA_3140A>G (H1047R)
R33ERMSPTPN11_226G>C (E76Q)

NOTE: FGFR4 mutations were identified by direct sequencing. No mutations were identified in any DSRCT.