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Table 3 Summary of mutation analyses of sorted blast populations

From: Blast cells surviving acute myeloid leukemia induction therapy are in cycle with a signature of FOXM1 activity

Clinical details Molecular Genetics Leukemia-associated immunophenotype (LAIP)
BBa Response Karyotype Gene Mutation Amino acid change Variant allele frequency LAIP details Pre-C % Post-C %
Pre-C % Post-C %
64 Borderline refractory with persistent inv.(3) Inv(3) KRAS
GATA2
PTEN
NOTCH1
Missense
Missense
Missense
Missense
G13D
L321V
G251D
D2108N
49
40
0
0
26
27
12
22
CD34hi/CD13+ 10.4 24.4
121 Refractory Inv(3) PTPN11 Missense G503A 45 50 CD34+/CD33+/−/HLADRwk/−CD34hi/CD13+ 57.1
20.6
21.7
50.4
205 Refractory Monosomal PTPN11
DNMT3A
Missense
Missense
E76Q
A192G
24
16
Failed CD34hi/CD33+ CD34+/CD33+/HLADRwk 70.9
25.0
5.12
30.9
285 Refractory Normal FLT3
TET2
KIT
U2AF1
EZH2
TET2
TP53
WT1
Missense
Stop-gain
Missense
Missense
Frameshift
Missense
Missense
Missense
D835E
R1452X
P623L
S34F
N/A
D1242G
E307G
R401K
47
41
11
0
0
0
0
0
31
35
0
26
41
20
16
12
CD34+/CD33+/−/CD7+ 57.2 90.3
349 Refractory Normal IDH2
TET2
Missense
Stop-gain
R172K
Q1539X
60
0
57
12
CD117hi 9.11 5.98
494 Refractory Monosomal TP53
JAK2
FBXW7
Missense
Missense
Missense
R234H
N533D
E471K
94
12
11
99
0
0
CD117+/CD45hi
CD117+/CD33+/CD7+
32.2
34.4
34.2
34.2
  1. aBiobank identifier
  2. Summary of Trusight Myeloid Sequencing Panel targeted next generation sequencing (NextSeq 500 System, Illumina) of sorted blast populations (see Table S2 for complete data). Also shown is the frequency of the indicated leukemia associated immunophenotype (LAIP) for each sample. C, chemotherapy