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. 2021 May 1;14(5):32–38.

TABLE 1.

Genomic findings (TMB, microsatellite status, and mutations) for each biopsy

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