Table 1.

Potentially actionable genomic alterations identified in 20 patients with ASPS sequenced through the AACR GENIE project.

GeneNo. of mutationAmino acid changeFrequencyPredicted pathogenicClinically actionableaPathway
KMT2D3M1098I; R3539Q; Q4557P15.80%NoYesHistone modification
ERCC52Q680R; G1099A11.80%NoYesDNA repair
PIK3CA2V101L; V196I10.00%NoYesPI3K
TOP11S97F7.10%NoYesTopoisomerase
IRS21E1009D7.10%NoYesInsulin receptor
POLE1A1629V6.30%YesYesDNA polymerase
NOTCH31E1725D5.90%NoYesTranscription factor
ARAF1P216L5.30%NoYesMAPK
ATRX1G1712V5.30%NoYesTumor suppressor
AXL1T797I5.30%NoYesJak/Stat
CCND21R165C5.30%NoYesCell-cycle
NTRK31Q586K5.30%NoYesTyrosine kinase
ATM1Y1124F5.00%NoYesTumor suppressor
KDR1L31P5.00%NoYesVEGF
NOTCH21C364S5.00%NoYesTranscription factor
PTEN1Y68H5.00%YesYesTumor suppressor
MTAP1I78M33.30%NoNo
WAS1A418S33.30%NoNo
ABCB111A1283V33.30%NoNo
DCLRE1C1E221G33.30%NoNo
DIS3L21Splice_Region33.30%NoNo
BCORL12I1022T; G1325C28.60%NoNo
CUX11M551I20.00%NoNo
SETBP11R625Q20.00%NoNo
FANCI1R451T20.00%NoNo
ETV41G174S14.30%NoNo
ZNF2171E209K14.30%NoNo
TP532R196P; N239D10.00%NoNo
INPP4B1P17R7.10%NoNo
FAT11M220L6.30%NoNo
RECQL41E9K6.30%NoNo
PMS11D397Y5.90%NoNo
TMPRSS21Splice_Region5.90%NoNo
PPP2R1A1S303Pfs*195.60%YesNo
DICER11I829S5.60%NoNo
ARID1B2R1911K; A329_G330insR5.60%NoNo
CBL1R835W5.30%NoNo
SOCS11V45_P46insRS5.30%NoNo
ARID21K304R5.30%NoNo
RB11V654Cfs*45.00%YesNo
  • Note: Bolded items are cancer associated potentially actionable genes in the clinic.

  • aClinical actionability determined at the time of clinical trial enrollment.