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Table 1 Gains and losses of mutations in known leukemia driver genes at relapse of AML

From: Molecular and genetic alterations associated with therapy resistance and relapse of acute myeloid leukemia

 

Total number of patients

Age group

Genetics at diagnosis

Number of patients with gain of mutation

Number of patients with loss of mutation

Reference

FLT3-ITD

Total

492

  

38

25

 

28

A

 

1

1

[65]

28

A

 

6

1

[77]

34

A

 

2

3

[76]

108

A

 

8

1

[81]

31

A

 

1

2

[85]

53

A

NPM1 m

9

3

[69]

80

A, P

 

5

4

[79]

44

A, P

 

2

5

[80]

23

P

 

2

1

[84]

63

P

 

2

4

[83]

FLT3-TKD

Total

385

  

10

24

 

34

A

 

1

3

[76]

120

A

 

6

8

[82]

31

A

 

0

1

[85]

53

A

NPM1 m

0

10

[69]

53

A, P

 

0

1

[79]

44

A, P

 

2

0

[80]

50

P

 

1

1

[83]

NPM1

Total

299

  

0

9

 

28

A

 

0

0

[65]

34

A

 

0

3

[76]

53

A

NPM1 m

n.a.

5

[69]

70

A, P

NPM1 m

n.a.

0

[124]

46

P

 

0

0

[125]

68

P

 

0

1

[83]

DNMT3A

Total

231

  

1

2

 

28

A

 

0

0

[65]

34

A

 

0

0

[76]

116

A

 

0

1

[87]

53

A

NPM1 m

1

1

[69]

CEBPA

Total

241

  

2

5

 

28

A

 

1

1

[65]

34

A

 

0

2

[76]

149

A, P

 

0

2

[86]

30

P

 

1

0

[83]

IDH2

Total

236

  

0

1

 

28

A

 

0

0

[65]

34

A

 

0

0

[76]

121

A

 

0

0

[126]

53

A

NPM1 m

0

1

[69]

IDH1

Total

115

  

4

2

 

28

A

 

0

0

[65]

34

A

 

0

0

[76]

53

A

NPM1 m

4

2

[69]

NRAS

Total

106

  

8

12

 

19

A

 

2

3

[77]

34

A

 

1

0

[76]

53

A

NPM1 m

5

9

[69]

KRAS

Total

62

  

1

1

 

28

A

 

0

1

[65]

34

A

 

1

0

[76]

RAS

Total

75

  

6

8

 

23

P

 

2

1

[84]

52

P

 

4

7

[83]

TP53

Total

104

  

3

1

 

28

A

 

0

1

[77]

23

A

 

2

0

[78]

53

A

NPM1 m

1

0

[69]

WT1

Total

104

  

14

0

 

23

P

 

3

0

[84]

42

P

 

5

0

[83]

39

P

 

6

0

[127]

ASXL1

Total

81

  

2

0

 

28

A

 

0

0

[65]

53

A

NPM1 m

2

0

[69]

KIT

Total

35

  

0

0

 

27

P

 

0

0

[83]

8

P

CBF

0

0

[128]

TET2

Total

62

  

0

0

 

28

A

 

0

0

[65]

34

A

 

0

0

[76]

MLL-PTD

 

34

A

 

0

0

[76]

PTPN11

 

23

P

 

0

1

[84]

RUNX1

 

28

A

 

1

1

[65]

  1. The total number of investigated patients, patient age group, genetics at diagnosis in studies based on selected samples, the number of patients with gain or loss of mutation in the respective gene, and the corresponding references are listed. This table summarizes mutations determined by small scale targeted sequencing approaches. Gains and losses of mutations in these genes were also found through next generation sequencing-based methods, as summarized in Additional file 3: Table S3A and B
  2. A adult, P pediatric, n.a. not applicable, NPM1 m AML with NPM1 mutations, CBF AML with core-binding factor rearrangements