Patient
Pedigree
Sex
AL
3
1
M
AML
4
1
M
5
2
F
7
2
F
9
4
F
12
6
M
13
7
F
14
8
F
16
10
M
22
13
F
24
25
14
15
M
F
Mutation
RUNX1 p.R177Q
RUNX1 p.A160T
FLT3-ITD
PHF6 p.S176VfsX16
KIT p.D816V
T-ALL
RUNX1 p.R177Q
NOTCH1 p.F1592S
PHF6 p.H329R
WT1 p. V371RfsX2
AML
RUNX1 p.Q308RfsX259
RUNX1 p.G138PfsX12
T-ALL followed by t- RUNX1 p.Q308RfsX259
AML 5 years later
KRAS p.G12D
before AML
RUNX1 p.R139X
development
KRAS p.I36M
AML
RUNX1 p.R139X
KRAS p.I36M
RAD21 p.R586X
T-ALL
RUNX1 p.G108V
WT1 p. R462W
WT1 p.V371SfsX19
FLT3-ITD
FLT3-TKD p.D835Y
AML
RUNX1 p.D305TfsX262
SRSF2 p.P95L
WT1 p.E384VfsX66
WT1 p.Val374GfsX12
TET2 p.T1280RfsX86
AML
RUNX1 p.H377PfsX191
RUNX1 p.S114P
SF3B1 p.K700E
AML
RUNX1 p.G143RfsX43
RUNX1 p.K83Q
BCORL1 p.R1420X
FLT3-ITD
AML
RUNX1 p.T219RfsX8
CBL p.L380P
MPL p.W515L
TP53 p.G245D
WT1 p.R369X
AML
RUNX1 p.T121HfsX9
AML
RUNX1 p.A129E
SRSF2 p.P95L
Variant allelic
frequency (%)
52
44
39
8
2
52
23
53
24
46
ND
ND
ND
48
4
81
45
31
52
33
11
15
5
63
39
31
40
8
45
34
4
51
42
77
11
83
80
10
51
6
49*
30
29
Supplementary Table 1. Variant allelic frequency for mutated genes in FPD/AML patients who
developed acute leukemia
Abbreviations: M: male, F: female, AML: acute myeloid leukemia, T-ALL: T- acute lymphoblastic
leukemia, ND: not done, *not done at leukemic stage, sample collected at the time of complete remission