TABLE 1.
Gene identification | Patient 1 | Patient 2 | Patient 3 | Patient 4 | Patient 5 | Patient 6, Biopsy 1 | Patient 6, Biopsy 2 | Patient 7 | Aberration Details | Targetable Aberration |
---|---|---|---|---|---|---|---|---|---|---|
TMB | High, 56 Muts/Mb | High, 115 Muts/Mb | High, 31 Muts/Mb | Intermediate, 11 Muts/Mb | High, 25 Muts/Mb | Intermediate, 7 Muts/Mb | Intermediate, 12 Muts/Mb | High, 75 Muts/Mb | -- | -- |
Microsatellite Status | Stable | Stable | Stable | Stable | Stable | Stable | Stable | Not noted | -- | -- |
TP53 | x | x | x | x | x | x | x | x | Table 2 | |
BRCA2 | x† | x† | x† | x† | Table 2 | x (Patients 2, 4, and 6) | ||||
RB1 | x | x | x | x | Table 2 | |||||
FAT1 | x | x | x | Table 2 | ||||||
CDKN2A | x | x | x† | Table 2 | x (Patient 7) | |||||
KMT2C (MLL3) | x | x | x | Table 2 | ||||||
MLL2 | x | x | x | Table 2 | ||||||
FLT1 | x | x | Table 2 | |||||||
NOTCH1 | x | x | Table 2 | |||||||
LRP1B | x | x | Table 2 | |||||||
NOTCH3 | x | x | Table 2 | |||||||
BCORL1 | x | x | Table 2 | |||||||
TERT-promoter | x | x | Table 2 | |||||||
ASXL1 | x | W930* | ||||||||
JUN | x | Amplification | ||||||||
HRAS | x† | G13D | x | |||||||
SMARCB1 | x† | Splice site 629-1G>A | x | |||||||
CIC | x | R422* | ||||||||
IKZF1 | x | G158S, Q366* | ||||||||
PREX2 | x | E421K | ||||||||
SPOP | x | E47K | ||||||||
EZH2 | x† | Y646N | x | |||||||
ARID2 | x | Q651* | ||||||||
NOTCH2 | x | Q206* | ||||||||
TNFRSF14 | x | G124fs*66 | ||||||||
FANCA | x | E692* | ||||||||
VHL | x | L188V | ||||||||
CCNE1 | x | Equivocal | ||||||||
NFKB1A | x | Equivocal | ||||||||
NKX2-1 | x | Equivocal | ||||||||
AKT1 | x† | Amplification | x | |||||||
PIK3R2 | x | E296* | ||||||||
ERBB3 | x† | R135C | x | |||||||
NF2 | x† | Q400* | x | |||||||
CARD11 | x | R888C | ||||||||
RUNX1T1 | x | R394W |
Redundant mutations (seen in more than one biopsy) are shown in green rows
†Mutations identified as candidates for targeted therapy