Table 1 Twenty cases with SF3B1 mutations examined serially

From: Subclonal evolution involving SF3B1 mutations in chronic lymphocytic leukemia

Patient number

Prior Tx

SF3B1 mutation

IGHV status

ZAP-70 status

FISH abnormality

Initial ratio (%)a

Increase over time (%)

First to last SC (months)

Increase/month (%)

P-value

1

Yes

K700E

UM

Pos

del(17p)

30.1

45.5

7.9

5.8

0.0091

2

No

E622D

MU

Neg

del(13q)

37.0

63.1

12.9

4.9

0.0095

3

No

K700E

MU

Neg

None

16.3

161.2

40.2

4.0

0.0022

4

No

G740E

UM

Pos

None

23.9

62.1

23.6

2.6

0.0096

5

Yes

G740E

UM

Pos

None

39.0

23.1

9.8

2.4

0.0111

6

Yes

R625C

UM

Pos

None

30.8

34.2

16.6

2.1

0.0464

7

Yes

K700E

MU

Pos

None

30.5

32.3

27.3

1.2

0.0017

8

No

K700E

UM

Pos

del(13q)

36.1

27.7

24.1

1.1

0.1472

9

No

K700E

UM

Pos

None

33.0

17.8

16.1

1.1

0.2104

10

No

K666E

UM

Neg

None

45.4

6.8

6.3

1.1

0.0726

11

No

K666E

UM

Pos

del(11q)

46.9

7.3

11.1

0.7

0.1641

12

No

K666N

UM

Neg

trisomy 12

49.9

10.4

23.8

0.4

0.1643

13

Yes

K666Q

UM

Pos

del(11q)

20.9

3.0

11.0

0.3

0.0750

14

No

E622D

UM

Pos

del(11q)

61.6

6.8

36.1

0.2

0.1413

15

Yes

K700E

MU

Neg

del(13q)

46.3

1.2

10.3

0.1

0.7482

16

Yes

K700E

UM

Pos

None

45.9

−0.3

35.7

0.0

0.7762

17

Yes

K700E

UM

Pos

del(11q)

48.7

−2.3

61.5

0.0

0.7643

18

No

N626Y

UM

Pos

del(13q)

52.5

−1.9

23.8

−0.1

0.4690

19

Yes

K741T

MU

Neg

del(13q)

63.7

−4.7

52.0

−0.1

0.1531

20

Yes

K700E

MU

Neg

del(13q)

49.2

−11.7

26.7

−0.4

0.2838

  1. Abbreviations: FISH, fluorescence in situ hybridization; IGHV, immunoglobulin heavy chain variable; MU, mutated; neg, negative; pos, positive; SC, sample collection ; UM, unmutated.
  2. The column marked ‘Prior Tx’ indicates whether the patient did (yes) or did not (no) have prior therapy for CLL. The column marked ‘SF3B1 mutation’ provides the site (middle number) and amino-acid residue of the wild-type and mutant allele, using standard single-letter amino-acid nomenclature. The column marked ‘IGHV status’ provides the mutation status for the expressed IGHV gene, which was considered UM when it had ⩾98% identity with the germ-line IGHV or MU when it had <98% identity. The column marked ‘ZAP-70 status’ indicates whether the CLL sample was pos or neg for ZAP-70, as assessed via flow cytometry. The column marked ‘FISH abnormality’ provides the abnormal FISH finding (if any) for the initial sample. The column marked ‘Initial ratio (%)’ provides the proportionate representation of the SF3B1-mutant allele in this initial sample. The column labeled ‘increase over time (%)’ provides the percent increase in the proportionate representation of the mutant SF3B1 allele, which was calculated with the formula 100 × [(mutant allele ratio of the last SC - mutant allele ratio of the first SC)/mutant allele ratio of the first SC]. The column marked ‘First to last SC (months)’ provides the number of months between the last SC and first SC. The column labeled ‘Increase/months (%)’ was calculated by dividing the value in the column marked ‘Increase over time’ by the value in the column labeled ‘First to last SC’. The P-values were calculated using the Student’s t-test when two time points were available or using the one-way analysis of variance when data from three or more time points from the same case were available.
  3. aInitial proportionate representation of the SF3B1-mutant allele according to the formula 100 × (M peak intensity/(M peak intensity+WT peak intensity)).
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