Table 1 Baseline characteristics of patients with U2AF1 mutation; N = 179 (%)/[range].

From: U2AF1 pathogenic variants in myeloid neoplasms and precursor states: distribution of co-mutations and prognostic heterogeneity

Variable

Total

N = 179

CCUS

N = 22

MDS

N = 108

MDS/AML

N = 18

AML

N = 31

P value

Age (years)

72 (19–92)

72 [56–92]

72 [50–92]

71 [19–90]

70 [19–90]

0.77

Age ≥70 years

73 (41.5)

9 (43)

42 (39)

7 (39)

15 (50)

0.76

Gender (male)

149 (83)

17 (81)

93 (86)

15 (83)

23 (74)

0.41

U2AF1 mutation

 S34

107 (60)

12 (45)

62 (57)

11 (61)

17 (55)

0.17

 Q157

63 (35)

10 (55)

42 (39)

6 (33)

11 (35)

0.36

 Other variants

9 (5)

0

4 (4)

1 (6)

3 (10)

0.09

 U2AF1 VAF % median (range)

35 [5–51]

33 [6–51]

36 [5–49]

33 [5–44]

35 [10–46]

0.77

MDS (n = 108)

     

N/A

 IPSS-R low risk

40 (37)

–

40 (37)

–

  

 IPSS-R intermediate risk

36 (33)

–

36 (33)

–

  

 IPSS-R high risk

21 (19)

–

21 (19)

–

  

 IPSS-R very high risk

11 (10)

–

11 (10)

–

  

Therapy-related myeloid neoplasm

33 (15)

1

21 (17)

3 (11)

8 (23)

0.21

WBC (109/L)

3 [0.40–116]

3.1 [1.1–8.8]

2.8 [0.8–53.3]

2.0 [0.4–8.3]

4.4 [0.5–116]

0.49

Hemoglobin (g/dl)

9 [5.8-14.9]

9.1 [6.2–13]

9.1 [6.2–14.9]

8.9 [5.8–13.1]

8.7 [6.9–14.1]

0.23

Platelet (109/L)

85.5 [5–826]

161 [33–309]

85 [5–826]

108 [8–354]

49.5 [12–335]

0.62

BM blast (%)

3.8 [0–90]

0 [0–5]

2 [0–9]

11 [11–19]

43 [20–90]

0.004

Concurrent CG abnormality

118 (67)

17 (77)

70 (65)

12 (70)

19 (61)

0.43

 del 20q

32 (18)

4 (18)

26 (24)

1 (5)

1 (3)

0.02

 Complex CG*

22 (12)

1 (4.5)

14 (13)

1 (5)

6 (19)

0.26

 Trisomy 8*

17 (9)

4 (18)

6 (6)

1 (6)

6 (19)

0.03

 Monosomy 7/del 7q*

14 (8)

2 (9)

9 (8)

2 (11)

1 (3)

0.79

 Other abnormalities

41 (23)

2 (9)

26 (24)

7 (39)

6 (19)

0.17

Myeloid co-mutations

144 (81)

17 (81)

86 (80)

16 (89)

25 (81)

0.88

Concurrent myeloid mutation observed in >5% of cases

 ASXL1

66 (37)

8 (33)

36 (33)

7 (39)

14 (45)

0.67

 BCOR

34 (19)

5 (24)

21 (19)

5 (28)

3 (10)

0.39

 RUNX1

25 (14)

1 (5)

15 (14)

4 (23.5)

5 (16)

0.41

 TET2

26 (15)

2 (9.5)

18 (17)

2 (11)

4 (13)

0.79

 DNMT3A

18 (10)

1 (5)

10 (9)

4 (22)

3 (10)

0.43

 RAS

15 (8)

2 (9.5)

8 (7)

0

5 (16)

0.21

 TP53

14 (8)

2 (9.5)

6 (5)

1 (5)

5 (16)

0.46

 JAK2

10 (5.5)

0

8 (7)

1 (5)

1 (3)

0.44

 SETBP1

9 (5)

0

5 (5)

0

4 (13)

0.07

No. of patients that received treatment (%)/CR (%)

125 (70)/29 (23)

6 (27)/(0)

75 (69)/19 (25)

17 (94)/3 (18)

27 (87)/7 (26)

<0.001

HMA

66 (53)/8 (12)

2 (33)/0

48 (64)/ 6 (12.5)

10 (59)/0

6 (22)/2 (33)

–

HMA plus venetoclax

10 (6)/5 (50)

0

4 (5)/3 (75)

1 (6)/1 (100)

5 (18.5)/1 (20)

 

Intensive chemotherapy

23 (18)/16 (70)

0

6 (8)/2 (33)

3 (18)/3 (100)

14 (52)/11 (79)

 

Other low-intensity/supportive care therapy

25 (20)/(0)

4 (67)/0

17 (23)/0

3 (18)/0

1 (4)/0

 

Allogeneic stem cell transplant

31 (18)

0

19 (17.5)

4 (22)

8 (26)

0.02

  1. IPSS-R revised international prognostic scoring system, HMA hypomethylating agent, CR complete remission, PR partial remission, HI hematological improvement, VAF variant allele frequency.
  2. Low-intensity therapy (hydrea, growth factors, immunomodulators, low dose cytarabine)
  3. *While the ICC includes these as MDS defining CG abnormalities, given that there is consensus needed between the WHO and ICC, for now we have not included these in the MDS category, as long as they did not meet criteria for morphological dysplasia.
Back to article page