Skip to main content

Table 1 Mutations in CD19+ and CD34+ cell populations identified in 56 CLL patients

From: Next-generation sequencing and FISH studies reveal the appearance of gene mutations and chromosomal abnormalities in hematopoietic progenitors in chronic lymphocytic leukemia

ID

IGHV mutation status

Mutated gene

Exon

cDNA change

AA change

COSMIC ID

Mutational load CD19+ (%)

Presence in CD34+ cells*

Mutational load CD34+ (%)

CD19/CD34 ratio

Mutational pattern

2

Unmutated

NOTCH1

34

c.7541_7542delCT

p.P2514Rfs*4

COSM12774

51.0

Yes

31.0

1.6

Maintained

6

Unmutated

NOTCH1

34

c.7541_7542delCT

p.P2514Rfs*4

COSM12774

50.0

Yes

58.0

0.9

Maintained

8

Unmutated

NOTCH1

34

c.7541_7542delCT

p.P2514Rfs*4

COSM12774

97.5

Yes

79.5

1.2

Maintained

13

Mutated

MYD88

4

c.695T>C

p.M232T

COSM85942

34.0

Yes

22.5

1.5

Maintained

14

Unmutated

TP53

5

c.523C>G

p.R175G

COSM10870

87.5

Yes

12.0

7.3

Decreased

18

Unmutated

NOTCH1

34

c.7541_7542delCT

p.P2514Rfs*4

COSM12774

36.5

Yes

13.5

2.7

Decreased

19

Unmutated

NOTCH1

34

c.7541_7542delCT

p.P2514Rfs*4

COSM12774

10.0

No

< 10

–

–

24

Unmutated

SF3B1

16

c.2225G>A

p.G742D

COSM145923

24.0

No

< 10

> 2.5

Decreased

21

Unmutated

XPO1

15

c.1711G>A

p.E571K

COSM96797

39.5

Yes

31.0

1.3

Maintained

25

Mutated

NOTCH1

34

c.7541_7542delCT

p.P2514Rfs*4

COSM12774

3.0

No

< 10

–

–

30

Unmutated

NOTCH1

34

c.7541_7542delCT

p.P2514Rfs*4

COSM12774

57.0

Yes

24.0

2.4

Maintained

31

Mutated

NOTCH1

34

c.7541_7542delCT

p.P2514Rfs*4

COSM12774

4.5

No

< 10

–

–

33

Unmutated

NOTCH1

34

c.7541_7542delCT

p.P2514Rfs*4

COSM12774

41.0

Yes

40.5

1.0

Maintained

34

Unmutated

NOTCH1

34

c.7541_7542delCT

p.P2514Rfs*4

COSM12774

50.0

Yes

51.5

0.9

Maintained

34

Unmutated

XPO1

15

c.1711G>A

p.E571K

COSM96797

24.5

Yes

24.5

1.0

Maintained

36

Mutated

FBXW7

9

c.1394G>T

p.R465L

COSM33762

39.0

No

< 10

> 2.5

Decreased

37

Unmutated

XPO1

15

c.1711G>A

p.E571K

COSM96797

50.5

Yes

38.5

1.3

Maintained

42

Unmutated

NOTCH1

34

c.7541_7542delCT

p.P2514Rfs*4

COSM12774

5.0

No

< 10

–

–

43

Unmutated

SF3B1

15

c.2110A>T

p.I704F

COSM132954

47.5

Yes

45.0

1.1

Maintained

47

Unmutated

XPO1

15

c.1711G>A

p.E571K

COSM96797

2.5

No

< 10

–

–

49

Unmutated

NOTCH1

34

c.7541_7542delCT

p.P2514Rfs*4

COSM12774

55.0

Yes

56.0

0.9

Maintained

49

Unmutated

XPO1

15

c.1711G>A

p.E571K

COSM96797

42.5

Yes

31.5

1.4

Maintained

50

Unmutated

FBXW7

9

c.1268G>T

p.G423V

COSM1052095

8.0

No

< 10

–

–

50

Unmutated

SF3B1

14

c.1874G>A

p.R625H

COSM255276

21.0

No

< 10

> 2.5

Decreased

52

Mutated

NOTCH1

34

c.7541_7542delCT

p.P2514Rfs*4

COSM12774

16.0

No

< 10

> 2.5

Decreased

53

Unmutated

SF3B1

14

c.1996A>G

p.K666E

COSM110694

43.0

Yes

14.0

3.1

Decreased

53

Unmutated

TP53

7

c.734G>A

p.G245D

COSM43606

41.5

Yes

16.5

2.5

Decreased

57

Mutated

FBXW7

9

c.1394G>A

p.R465H

COSM22965

41.5

Yes

13.0

3.2

Decreased

  1. *Only cases with > 10% CD34+ cells mutated were considered providing the purity for this cell fraction was higher than 90% in all the cases
Back to article page

Journal of Hematology & Oncology

ISSN: 1756-8722

Contact us