No(UPN)
|
Diagnosis
|
chromo
|
( MDS to AML)(m)
|
Presumed last event
|
All gene mutations
|
The patients in whom AML transformation-related mutations could be presumed by paired sequencing analysis
(listed as activated signaling, transcription factors and tumor suppressor
Activated signaling
|
1.(809)
|
RCMD
|
normal
|
|
CEBPA/1/K352fs(15)
FLT3/9/D358V(48)
RUNX1/6/508+1G>C(24)/5/G170R(23)
|
ASXL1;CEBPA;EZH2;FLT3;RUNX1*2;STAG2;TET2
|
|
AML
|
normal
|
17
|
FLT3/9/D358V(48)
RUNX1/6/508+1G>C(45)/5/G170R(42)
NRAS/2G13R(48)
|
ASXL1; EZH2;FLT3;RUNX1×2;STAG2;TET2;BCOR; NRAS
|
2.(1057)
|
RAEB1
|
normal
|
|
PTPRD/10/A539V(51)
|
DNMT3A; PTPRD;STAG2;U2AF1
|
|
AML
|
normal
|
48
|
PTPRD/10/A539V(46)
RUNX1/4/L98fs(28)
NRAS/2/3/G12V/Q61L(15)(15)
CBL/8/C384R(12)
|
DNMT3A; PTPRD;STAG2;U2AF1;CBL;NRAS×2;RUNX1
|
3.(2356)
|
RAEB1
|
normal
|
|
PHF6/4/C107fs(16)
RUNX1/5/A149_A150delinsGX(16)
TP53/3/c.74+14T>C(51)
|
BCOR;ITIH3;PHF6;RUNX1;TET2;TP53
|
|
AML
|
normal
|
6
|
PHF6/4/C107fs(23)
RUNX1/5/A149_A150delinsGX(21)
TP53/3/c.74+14T>C(55)
KRAS/2/G13D(25)
|
BCOR;ITIH3;PHF6;RUNX1;TET2;TP53;EZH2; KRAS
|
4.(2998)
|
RAEB2
|
normal
|
|
RUNX1/9/967+1>A6/886+1>A(31)
KRAS/2/G12S(30)
|
ASXL1;KRAS;RUNX1;U2AF1
|
|
AML
|
normal
|
2
|
RUNX1/9/967+1>A6/886+1>A(28)
KRAS/2/G12S(27)
|
ASXL1;KRAS;RUNX1;U2AF1
|
5..(2747)
|
RAEB2
|
normal
|
|
|
BCOR; ITIH3
|
|
AML
|
normal
|
10
|
NRAS/2/G12D(57)
|
BCOR; ITIH3;KIF20B;NRAS;STAG2;
|
6.(3430)
|
CMML1
|
normal
|
|
GATA2/4/G327E(29)/4/323_323del(13)
RUNX1/6/D198Y(41)
KRAS/2/G12C(11)
NRAS/2/G12D(29)
|
GATA2*2; KRAS;NRAS;RUNX1;SF3B1;UPF3A
|
|
AML
|
normal
|
7
|
GATA2/4/G327E(29)/4/323_323del(38)
RUNX1/6/D198Y(43)
KRAS/2/G12C(45)
|
GATA2*2; KRAS; RUNX1;SF3B1;UPF3A; EZH2
|
7.(3435)
|
RCMD
|
normal
|
|
RUNX1/1/P86S(46)
|
ASXL1;EZH2;RUNX1;STAG2;UPF3A
|
|
AML
|
normal
|
33
|
RUNX1/1/P86S(43)
PTPN11/3/F71L(34)
NRAS/2/G12D(9.7)
|
ASXL1;EZH2;RUNX1;STAG2;UPF3A;BCOR;NRAS;PTPN11
|
8.(3541)
|
RAEB2
|
del20q-
|
|
GATA2/5/L345W(43)
|
DNMT3A;GATA2;TET2
|
|
AML
|
del20q-
|
14
|
GATA2/5/L345W(30)
KRAS/2/G12R(30)
|
DNMT3A;GATA2;TET2;BCOR;KRAS
|
9.(3626)
|
RCMD
|
normal
|
|
|
ASXL1;DHX9;IDH1;RUNX1;TET2;U2AF1
|
|
AML
|
NA
|
29
|
ETV6/6/G381fs(48)
NRAS/2/G12A(44)
|
ASXL1;DHX9;IDH1;RUNX1;TET2;U2AF1;ETV6;NRAS
|
10(4674)
|
RCMD
|
Complex
|
|
RUNX1/1/H78Y(53)
ETV6/6/R339I(15)
|
DNMT3A;ETV6;EZH2;KIF20B;RUNX1;SETBP1
|
|
AML
|
Complex
|
5
|
RUNX1/1/H78Y(43)
NRAS/2/G12A(23)
PTPN11/3/A72V(18)
|
DNMT3A; KIF20B;RUNX1;SETBP1;NRAS;PTPN11;
|
11.(4687)
|
RCMD
|
normal
|
|
GATA2/3/M223I(51)
RUNX1/2/G138fs(42)
|
ASXL1;EZH2;GATA2;RUNX1;STAG2;TET2*2
|
|
AML
|
NA
|
6
|
GATA2/3/M223I(55)
RUNX1/2/G138fs(50)
NRAS/2/G12D(52)
|
ASXL1;EZH2;GATA2;RUNX1;STAG2;TET2*2;ROBO1;NRAS
|
12.(4877)
|
RCMD
|
normal
|
|
MPL/2/A58V(47)
KRAS/2/G12S(41)
|
ASXL1;KRAS;MPL;STAG2;TET2;
|
|
AML
|
normal
|
17
|
MPL/2/A58V(46)
KRAS/2/G12S(55)
PTPRD/23/R588C(52)
|
ASXL1;KRAS;MPL;STAG2;TET2;PTPRD
|
13.(5305)
|
RCMD
|
normal
|
|
NRAS/2/G13D(4.1)/2/G12D(3.4)
|
IDH1;KMT2D;NRAS;
|
|
AML
|
normal
|
9
|
NRAS/2/G13D(38)
ETV6/4/H141Tfs313(16)
|
IDH2;KMT2D;NRAS;ETV6
|
14.(5253)
|
RCMD
|
normal
|
|
None
|
None
|
|
AML
|
t(3;6),-7
|
40
|
RUNX1/6/R201Q(48)
NRAS/3/Q61H(25)
PTPN11/3/E69K(23.4)
|
ANKRD11;NRAS;PTPN11/RUNX1
|
15.(1587)
|
RAEB1
|
der2
|
|
JAK2/14/V617F(46)
FLT3/19/c.2208-14A.G(52)
|
IDH2;FLT3;JAK2;U2AF1;ZRSR2
|
|
AML
|
der2
|
25
|
JAK2/14/V617F(43)
FLT3/19/c.2208-14A.G(49)
|
IDH2;FLT3;JAK2;U2AF1;ZRSR2
|
16.(1792)
|
RAEB1
|
der4
|
|
RUNX1/9/Q397R(47)
|
RUNX1;U2AF1
|
|
AML
|
der4
|
8
|
RUNX1/9/Q397R(30)
FLT3/11/E444V(37)11/E444X)(37)
|
RUNX1;U2AF1; FLT3*2;ROBO1;
|
17.(2117)
|
RCMD
|
complex
|
|
TP53/5/8/Y126C(16)/R273S(15)
|
SRSF2;TP53*2
|
|
AML
|
complex
|
8
|
TP53/5/8/Y126C(14)/R273S(14)
FLT3/9/D358V(55)
|
TP53*2;FLT3
|
18.(2570)
|
RAEB1
|
normal
|
|
RUNX2/6/D198N(35)
|
IDH2;RUNX1;SRSF2
|
|
AML
|
+8
|
5
|
FLT3/11/A445V(49)/11/A445S(49)
|
FLT3*2;
|
19.(2577)
|
CMML1
|
normal
|
|
CEBPA/1/p69-70del(17)
NPM1/10/L258fs(33)
|
CEBPA;DNMT3A;NPM1;ROBO1;TET2
|
|
AML
|
normal
|
11
|
CEBPA/1/p69-70del(21)
NPM1/10/L258fs(25)
FLT3/14/K602delinsREYEYDLK (14)
|
CEBPA;DNMT3A;NPM1;ROBO1;TET2;FLT3
|
20.(3183)
|
RCMD
|
add(3,)+8
|
|
|
BCOR;DHX9;EZH2*2;IDH1;;ROBO1;STAG2;U2AF1
|
|
AML
|
add(3,)+8
|
6
|
FLT3/9/D358V(52)
CBL/11/C1564-13C>T(40)
|
BCOR; DHX9; EZH2*2; IDH1; ROBO1; STAG2; U2AF1; CBL; FLT3;
TET2
|
21.(4383)
|
RCMD
|
normal
|
|
|
DNMT3A;SF3B1
|
|
AML
|
+1,der(1;16)
|
18
|
PHF6/2/S22★(5.6)
FLT3/9/T382M(45)
CBL/15/E765G(49)
KIT/14/S713F(49)
|
DNMT3A;SF3B1;CBL;FLT3;KIT;PHF6
|
22.(5135)
|
RAEB2
|
Add7,del20q
|
|
|
ASXL1;ITIH3;TET2;U2AF1
|
|
AML
|
Add7,del20q
|
5
|
FLT3-ITD(high)1.597
|
ASXL1;ITIH3;TET2;U2AF1;FLT3-ITD
|
23.(692)
|
CMML2
|
normal
|
|
GATA2/3/S186T(47)
PHF6/9/:c.968+1G>A(25)
RUNX1/9/F416fs(27)
|
GATA2;ITIH3;PHF6;RUNX1;SF3B1;
|
|
AML
|
normal
|
10
|
GATA2/3/S186T(50)
PHF6/9/:c.968+1G>A(26)
RUNX1/9/F416fs(24)
CBL/9/R420Q(34)
|
GATA2;ITIH3;PHF6;RUNX1;SF3B1; CBL
|
24.(1891)
|
CMML1
|
der22
|
|
|
DNMT3A;ROBO2;TET2
|
|
AML
|
der22
|
14
|
CBL/11/c.1564-13C>T(56)
CEBPA/1/A265fs(37)K90fs(52)
|
DNMT3A;ROBO2;TET2*2;CBL;CEBPA*2;EZH2
|
25. (2206)
|
RCMD
|
+8
|
|
NF1/17/M645V(49)
PTPRD/29A1047S(44)
CBL/8/C396R(27)
|
ANKRD11;ASXL1;CBL;NF1;PTPRD;U2AF1
|
|
AML
|
+8
|
3
|
NF1/17/M645V(51)
PTPRD/29A1047S(40)
CBL/8/C396R(21)
|
ANKRD11;ASXL1;CBL;NF1;PTPRD;U2AF1
|
26.(4559)
|
RAEB2
|
complex
|
|
CBL/15/S791fs(9.6)/15/L790fs(9.7)
|
ANKRD11;ASXL1;CBL*2; ROBO1
|
|
AML
|
complex
|
11
|
CBL/15/S791fs(8.7)/15/L790fs(8.8)
|
ANKRD11;ASXL1;CBL*2; ROBO1
|
27.(2638)
|
CMML1
|
normal
|
|
PTPN11/14/P563R(43)
|
PTPN11; ROBO1;
|
|
AML
|
normal
|
16
|
PTPN11/14//P563R(45) /3/D61V(37)
|
PTPN11×2; ROBO1;SF3B1
|
28.(4133)
|
RAEB1
|
complex
|
|
CBL/9/R420Q(71)
TP53/4/c.306-2A>G(96)
|
ASXL1;CBL;ROBO2;TP53
|
|
AML
|
complex
|
3
|
CBL/9/R420Q(39)
TP53/4/c.306-2A>G(97)
PTPN11/13/G507V(28)
|
ASXL1;CBL;ROBO2;TP53;PTPN11
|
29.(4410)
|
RAEB1
|
del20q
|
|
PTPN11/3/D61H(33)
|
EZH2; PTPN11;SETBP1;TET2
|
|
AML
|
del20q
|
12
|
PTPN11/3/D61H(48)
|
EZH2; PTPN11;SETBP1;TET2
|
30(4820)
|
RCMD
|
Add3,add18
|
|
|
EZH2;KMT2D;U2AF1
|
|
AML
|
Add3
|
15
|
PTPN11/3/E76A(8.0)
|
EZH2;KMT2D;U2AF1;PTPN11
|
31.(3891)
|
RCMD
|
normal
|
|
PTPRD/18/I930V(51)
|
ASXL1;PTPRD
|
|
AML
|
normal
|
8
|
PTPRD/18/I930V(46)
|
ASXL1;PTPRD
|
32.(702)
|
RCMD
|
der16,(1;16)del20q
|
|
|
ANKRD11;SRSF2
|
|
AML
|
der16t(1;16)del20q
|
28
|
MPL/10/W515L(17)
GATA2/6/R396W(15)
|
ANKRD11;SRSF2;GATA2;IDH1;MPL
|
Myeloid Transcriptors
|
33.(1018)
|
RAEB2
|
derX,der14
|
|
|
DNMT3A; EZH2; TET2
|
|
AML
|
derX,der14
|
4
|
FLT3:/9/D358V(53)
CEBPA/1/A295V(39)
|
DNMT3A; EZH2; TET2;BCOR;CEBPA;FLT3
|
34.(1090)
|
RARS
|
del20q
|
|
RUNX1/9/D344G(45)
|
DNMT3A;DHX9;RUNX1; SRSF2;
|
|
AML
|
del20q
|
11
|
RUNX1/9/D344G(48)/7/R232W(20)
CEBPA/1/Y285fs(32)
|
DNMT3A; DHX9;RUNX1*2;SRSF2; ASXL1;CEBPA;SETBP1
|
35.(1243)
|
RCMD
|
normal
|
|
|
ASXL1; U2AF1
|
|
AML
|
normal
|
18
|
CEBPA/1/7_15del(40)
|
ASXL1; U2AF1; CEBPA; IDH1
|
36 (1931)
|
RAEB1
|
complex
|
|
CEBPA/1/S9F(67)
|
CEBPA;DNMT3A;TET2;U2AF1
|
|
AML
|
complex
|
9
|
CEBPA/1/S9F(46)
|
CEBPA;DNMT3A;TET2;U2AF1
|
37.(3288)
|
RN
|
normal
|
|
|
KIF20B;STAG2;TET2*2
|
|
AML
|
normal
|
12
|
CEBPA/1/L338P(36)
|
KIF20B;STAG2;TET2*2;ASXL1,CEBPA;EZH2
|
38.(3552)
|
RARS
|
-Y
|
|
|
SF3B1; TET2
|
|
AML
|
NA
|
28
|
CEBPA/1/c238delineCSG(18)
|
SF3B1; TET2; CEBPA;; IDH2;SRSF2; STAG2
|
39.(3826)
|
RCMD
|
del7
|
|
|
ASXL1;EZH2
|
|
AML
|
normal
|
22
|
CEBPA/1/Y166X(48)P58fs(47)
|
ASXL1;EZH2;CEBPA*2
|
40.(4196)
|
RCMD
|
del20q,+21
|
|
PHF6/4/G93S(27)
RUNX1/1/R80C(51)
|
PHF6; RUNX1;SRSF2;
|
|
AML
|
del20q,+21
|
8
|
PHF6/4/G93S(45)
RUNX1/1/R80C(78)
NRAS/2/G12D(34)
CEBPA/1/69_70del(11)
|
PHF6; RUNX1;SRSF2; CEBPA;NRAS
|
41.(4634)
|
RAEB2
|
normal
|
|
NPM1/7/L160fs(24)
NRAS/2/G13D(16)
|
NPM1;NRAS;SF3B1;TET2
|
|
AML
|
normal
|
2
|
NPM1/7/L160fs(35)
NRAS/2/G13D(37)
CEBPA/1/69_70del(9.8)
|
NPM1;NRAS;SF3B1;TET2;CEBPA
|
42(4806)
|
CMML1
|
normal
|
|
|
ANKRD11;DHX9;TET2;
|
|
AML
|
+8
|
11
|
CEBPA/1/1/E228fs(4.8)/L212Q(28)
|
ANKRD11;DHX9;TET2;CEBPAX2
|
43.(1350)
|
RAEB1
|
complex
|
|
PHF6/9/Y303X(56)
RUNX1/9/P333fs(29)
|
EZH2;PHF6;RUNX1;TET2
|
|
AML
|
complex
|
2
|
PHF6/9/Y303X(46)
RUNX1/9/P333fs(17)
|
EZH2;PHF6;RUNX1;TET2
|
44.(1582)
|
CMML1
|
normal
|
|
PTPRD/22/c.962-9C>G(47)
|
KIF20B;PTPRD;SF3BA;TET2
|
|
AML
|
normal
|
13
|
PTPRD/22/c.962-9C>G(43)
RUNX1/9/P340fs(40)
|
KIF20B;PTPRD;SF3BA;TET2;RUNX1
|
45.(3479)
|
RCMD
|
normal
|
|
RUNX1/3/R174Q(28)
|
ASXL1;RUNX1;TET2; ZRSR2
|
|
AML
|
normal
|
15
|
RUNX1/3/R174Q(42)
|
ASXL1;RUNX1;TET2*2;ZRSR2;
|
46.(3536)
|
RCMD-RS
|
normal
|
|
RUNX1/4/H105Y(40)
|
ASXL1;ROBO1;RUNX1;SF3B1;UPF3A
|
|
AML
|
del5q
|
3
|
RUNX1/4/H105Y(34)
|
ASXL1;ROBO1;RUNX1;SF3B1;UPF3A
|
47.(4143)
|
RAEB1
|
normal
|
|
RUNX1/4/S229fs(34)
|
BCOR;DNMT3A;IDH2;ROBO1;RUNX1
|
|
AML
|
normal
|
3
|
RUNX1/4/S229fs(39)
|
BCOR;DNMT3A;IDH2;ROBO1;RUNX1
|
48.(811)
|
RCMD
|
der6,t(1;6)
|
|
|
None
|
|
AML
|
der6,t(1;6)
|
26
|
ETV6/6/V345L(52)
MPL/10/W515R(50)
|
ETV6;MPL
|
49.(4390)
|
RCMD
|
normal
|
|
ETV6/7/M389R(33)
PHF6/10/R342X(27)
|
ASXL1;BCOR;ETV6;PHF6
|
|
AML
|
inv3add3
|
15
|
PHF6/10/R342X(45)
ETV6/7/M389R(42)
|
BCOR;ETV6;PHF6
|
50.(1601)
|
RAEB2
|
normal
|
|
SETBP1/3/c487-3C>T(44)
|
SETBP1
|
|
AML
|
normal
|
8
|
SETBP1/3/c487-3C>T(43)
|
SETBP1
|
51.(3053)
|
RAEB2
|
normal
|
|
|
STAG2;UPF3A
|
|
AML
|
normal
|
40
|
SETBP1/4/D868N(18)
|
SETBP1;SRSF2
|
|
Tumor suppressors
|
52.(843)
|
RCMD
|
der1del1
|
|
|
SRSF2; TET2
|
|
AML
|
der1
|
3
|
TP53/5/C135X(18)
|
SRSF2;TET2;TP53
|
53.(1354)
|
RAEB1
|
normal
|
|
|
None
|
|
AML
|
complex
|
7
|
TP53/8/E287fs(40)/6/G199E(28)
|
ASXL1;TP53×2
|
54.(1445)
|
RAEB2
|
normal
|
|
TP53/8/E287D(56)
|
ROBO1;TP53;UPF3A
|
|
AML
|
del11q
|
27
|
TP53/8/E287D(48)
|
ROBO1;TP53;UPF3A
|
55.(1694)
|
RAEB2
|
complex
|
|
TP53/7/M237I(74)
|
DNMT3A; TP53
|
|
AML
|
complex
|
3
|
TP53/7/M237I(80)
|
DNMT3A; TP53
|
56.(1831)
|
RAEB1
|
complex
|
|
TP53/4/W91X(30)
|
ANKRD11;DNMT3A;TP53
|
|
AML
|
complex
|
13
|
TP53/4/W91X(30)/5/R158L(31)
|
ANKRD11;DNMT3A;TP53*2;KIF20B;STAG2
|
57.(2296)
|
RAEB2
|
normal
|
|
|
DHX9; ROBO1;
|
|
AML
|
normal
|
4.5
|
TP53/9/R303fs(85)
|
DHX9;ROBO1; TP53
|
58.(2666)
|
RAEB1
|
normal
|
|
PTPRD/27/G809V(56)
|
DNMT3A;IDH2;PTPRD
|
|
AML
|
normal
|
18
|
PTPRD/27/G809V(51)
TP53/5/P151S(25)
|
DNMT3A;IDH2;PTPRD;TP53;
|
59.(3678)
|
RAEB1
|
complex
|
|
TP53/5/530-535del (34)
|
TP53
|
|
AML
|
complex
|
15
|
TP53/5/530-535del(53)
|
TP53
|
60.(3380)
|
CMML1
|
complex
|
|
TP53/2/S83G(84)
|
TP53
|
|
AML
|
complex
|
13
|
TP53/2/S83G(60)
|
TP53
|
61.(1670)
|
RCMD
|
del18q
|
|
GATA2/5/M388fs(41)
TP53/2/E11Q(51)
ETV6/5/V285M(49)
WT1/1/A115fs(12)
|
BCOR;ETV6;GATA2;TET2;TP53;U2AF1;WT1
|
|
AML
|
del18q
|
2
|
GATA2/5/M388fs(40)
TP53/2/E11Q(50)
ETV6/5/V285M(53)
WT1/1/A115fs(25)
|
BCOR;ETV6;GATA2;TET2;TP53;U2AF1;WT1
|
62.(1849)
|
RCMD
|
normal
|
|
WT1/7/H428fs(31)
|
DNMT3A;IDH1;TET2; WT1
|
|
AML
|
normal
|
8
|
WT1/7/H428fs(40)
|
DNMT3A;IDH1;TET2*2;WT1
|
63.(3567)
|
RAEB2
|
normal
|
|
FLT3/12/c.1419-3->T(15)
NPM1/10/R262fs(43)/10W259delinsWQ(44)/10/R262S(44)/7/W163L(42)
|
DHX9;DNMT3A;ANKRD11;FLT3; NPM*4;
|
|
AML
|
normal
|
4
|
NPM1/10/R262fs(12)/10W259delinsWQ(25)/10/R262S(19)/7/W163L(20)
WT1/7/S169fs(32)
|
DHX9;DNMT3A;ANKRD11; NPM×4;ROBO1;WT1
|
64.(1892)
|
RAEB2
|
normal
|
|
NPM1/11/L287f(35)
|
DNMT3A;IDH1;NPM1
|
|
AML
|
normal
|
9
|
NPM1/11/L287f(31)
|
DNMT3A;IDH1;NPM1
|
The patients in whom last gene events could not be presumed by paired target sequencing analysis
|
65.(1075)
|
RA
|
normal
|
|
|
DHX9;IDH2;ROBO2; STAG2;UPF3A
|
|
AML
|
normal
|
20
|
|
DHX9;IDH2;ROBO2; STAG2;UPF3A;TET2
|
66.(1619)
|
RAEB2
|
complex
|
|
|
DHX9;DNMT3A;ITIH3*2
|
|
AML
|
complex
|
25
|
|
DHX9;DNMT3A;ITIH3*2
|
67.(1702)★
|
RAEB2
|
normal
|
|
|
SRSF2
|
|
AML
|
der12
|
19
|
|
SRSF2
|
68.(3831)★
|
RAEB2
|
normal
|
|
|
ANKRD11;IDH2
|
|
AML
|
normal
|
4
|
|
ANKRD11;IDH2
|
69.(3155)★
|
RCMD
|
+14,del20q
|
|
|
ROBO1
|
|
AML
|
normal
|
7.5
|
|
ROBO1
|
70.(3437)
|
RA
|
Inv9
|
|
|
DNMT3A;ROBO1
|
|
AML
|
Inv9
|
3
|
|
DNMT3A;ROBO1
|
71.(4145)
|
RCMD
|
+1,der(1:7)
|
|
|
EZH2;IDH1
|
|
AML
|
NA
|
14
|
|
ASXL1;TET2*2;ZRSR2
|
72.(4404)
|
RAEB1
|
complex
|
|
|
SRSF2;TET2
|
|
AML
|
complex
|
18
|
|
TET2
|