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Table 1 Clinical characteristics of 129 MDS patients based on the mutation status of spliceosomal genes

From: The prognostic impact of mutations in spliceosomal genes for myelodysplastic syndrome patients without ring sideroblasts

Characteristics

SF3B1wt (n = 120, 93.0 %)

SF3B1mut (n = 9, 7.0 %)

P

U2AF1wt (n = 119, 92.2 %)

U2AF1mut (n = 10, 7.8 %)

P

SRSF2wt (n = 116, 89.9 %)

SRSF2mut (n = 13, 10.1 %)

P

Age (years)a

63.4 ± 11.9

67.9 ± 19.1

0.295

63.6 ± 12.5

63.8 ± 11.8

0.975

62.8 ± 12.7

71.5 ± 5.5

0.000

Sex

  

0.730

  

0.183

  

0.381

 Male, n (%)

67 (55.8)

4 (44.4)

 

63 (52.9)

8 (80.0)

 

62 (53.4)

9 (70.2)

 

 Female, n (%)

53 (44.2)

5 (55.6)

 

56 (47.1)

2 (20.0)

 

54 (46.6)

4 (30.8)

 

Blood countsa

         

 WBC (× 103/μl)

5.6 ± 14.3

3.7 ± 1.8

0.700

5.5 ± 14.4

5.1 ± 4.6

0.935

5.6 ± 14.6

4.2 ± 2.7

0.734

 Neutrophil (× 103/μl)

3.4 ± 12.0

1.5 ± 1.3

0.650

3.2 ± 12.1

3.4 ± 3.9

0.960

3.4 ± 12.3

1.9 ± 1.9

0.672

 Hemoglobin (g/dl)

9.7 ± 2.2

9.2 ± 2.3

0.556

9.7 ± 2.2

8.4 ± 2.0

0.063

9.7 ± 2.3

9.4 ± 1.8

0.657

 Platelet (× 103/μl)

95 ± 91

168 ± 151

0.183

100 ± 98

92 ± 87

0.806

100 ± 100

91 ± 67

0.734

 Bone marrow blasts (%)

5.3 ± 5.3

3.8 ± 5.0

0.398

5.0 ± 5.2

7.7 ± 6.2

0.123

5.2 ± 5.4

5.6 ± 4.3

0.783

WHO subtype, n (%)

  

0.303

  

0.516

  

0.094

 RCUD

18 (15.0)

1 (11.1)

 

19 (16.0)

0 (0.0)

 

18 (15.5)

1 (7.7)

 

 RCMD

51 (42.5)

5 (55.6)

 

52 (43.7)

4 (40.0)

 

50 (43.1)

6 (46.2)

 

 RAEB-1

15 (12.5)

1 (11.1)

 

13 (10.9)

3 (30.0)

 

11 (9.5)

5 (38.5)

 

 RAEB-2

29 (24.2)

1 (11.1)

 

27 (22.7)

3 (30.0)

 

29 (25.0)

1 (7.7)

 

 MDS-U

1(0.8)

0 (0.0)

 

1 (0.8)

0 (0.0)

 

1 (0.9)

0 (0.0)

 

 MDS associated with isolated del(5q)

1 (0.8)

1 (11.1)

 

2 (1.7)

0 (0.0)

 

2 (1.7)

0 (0.0)

 

 Hypoplastic MDS

5 (4.2)

0 (0.0)

 

5 (4.2)

0 (0.0)

 

5 (4.3)

0 (0.0)

 

Karyotype, n (%)

  

0.013

  

0.022

  

0.048

 Normal

87 (72.5)

6 (66.7)

 

87 (73.1)

6 (60.0)

 

86 (74.1)

7 (53.8)

 

 -Y only

3 (2.5)

0 (0.0)

 

3 (2.5)

0 (0.0)

 

3 (2.6)

0 (0.0)

 

 −5 or del(5q)

2 (1.7)

1 (11.1)

 

3 (2.5)

0 (0.0)

 

3 (2.6)

0 (0.0)

 

 del(11q)

1 (0.8)

0 (0.0)

 

1 (0.9)

0 (0.0)

 

0 (0.0)

1 (7.7)

 

 del(20q)

0 (0.0)

1 (11.1)

 

1 (0.9)

0 (0.0)

 

1 (0.9)

0 (0.0)

 

 −7

1 (0.8)

0 (0.0)

 

0 (0.0)

1(10.0)

 

1 (0.9)

0 (0.0)

 

 Complex (≥3)

11 (9.2)

0 (0.0)

 

11 (9.2)

0 (0.0)

 

8 (6.9)

3 (23.1)

 

 Other

15(12.5)

1 (11.1)

 

13 (10.9)

3 (30.0)

 

14 (12.0)

2 (15.4)

 

IPSS-R risk classification, n (%)

  

0.133

  

0.270

  

0.505

 Very low

14 (11.8)

1 (11.1)

 

15 (12.6)

0 (0.0)

 

14 (12.1)

1 (7.7)

 

 Low

25 (20.8)

5 (55.6)

 

29 (24.4)

1 (10.0)

 

29 (25.0)

1 (7.7)

 

 Intermediate

40 (33.3)

2 (22.2)

 

39 (32.8)

3 (30.0)

 

36 (31.0)

6 (46.2)

 

 High

31 (25.8)

0 (0.0)

 

26 (21.8)

5 (50.0)

 

28 (24.1)

3 (23.1)

 

 Very high

10 (8.3)

1 (11.1)

 

10 (8.4)

1 (10.0)

 

9 (7.8)

2 (15.3)

 
  1. aMean ± SD
  2. Statistical significance is indicated by boldface type
  3. wt, wild type; mut, mutated; WBC, white blood cell; WHO, World Health Organization; MDS, myelodysplastic syndrome; RCUD, refractory cytopenia with unilineage dysplasia; RCMD, refractory cytopenia with multilineage dysplasia; MDS-U, myelodysplastic syndrome-unclassifiable; RAEB, refractory anemia with excess of blasts; del, deletion; IPSS-R, revised International Prognostic Scoring System
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