Skip to main content

Table 2 Main demographic and clinical features of T-ALL patients according to type and classification of NOTCH1 mutations

From: Impact of complex NOTCH1 mutations on survival in paediatric T-cell leukaemia

Variables

Point Mutationsa (%)

Complex Mutations n (%)

p value

Missense n (%)

Nonsense n (%)

p value

Age (Years)

      

   < 10

14 (42.4)

14 (51.9)

0.466

21 (45.7)

7 (50.0)

0.775

   10-18

19 (57.6)

13 (48.1)

 

25 (54.3)

7 (50.0)

 

Gender

      

   Male

26 (78.8)

20 (74.1)

0.668

34 (73.9)

12 (85.7)

0.361

   Female

7 (21.2)

7 (25.9)

 

12 (26.1)

2 (14.3)

 

WBC (x109/L)

      

   <50

20 (60.6)

9 (33.3)

0.035

23 (50.0)

6 (42.9)

0.640

   ≥50

13 (39.4)

18 (66.7)

 

23 (50.0)

8 (57.1)

 

Skin colour

      

   White

8 (24.2)

13 (48.1)

0.053

15 (32.6)

6 (42.9)

0.481

   Non-white

25 (75.8)

14 (51.9)

 

31 (67.4)

8 (57.1)

 

T-ALL subtypesb

      

   T-I

4 (12.9)

5 (18.5)

0.825

8 (17.8)

1 (7.6)

0.589

   T-II

4 (12.9)

5 (18.5)

 

6 (13.3)

3 (23.1)

 

   T-III

10 (32.3)

8 (29.6)

 

15 (33.3)

3 (23.1)

 

   T-IV

13 (41.9)

9 (33.3)

 

16 (35.6)

6 (46.2)

 

CD10 statusc

      

   Positive

11 (39.3)

5 (20.0)

0.127

15 (37.5)

1 (7.7)

0.042

   Negative

17 (60.7)

20 (80.0)

 

25 (62.5)

12 (92.3)

 

NOTCH1 mutated domain

      

   HD

28 (84.8)

14 (51.9)

0.014

38 (82.6)

4 (28.6)

<0.0001

   PEST/TAD

4 (12.1)

7 (25.9)

 

4 (8.7)

7 (50.0)

 

   Both domains

1 (3.0)

6 (22.2)

 

4 (8.7)

3 (21.4)

 

FBXW7statusd

      

   Mutated

6 (20.0)

7 (29.2)

0.434

11 (27.5)

2 (14.3)

0.320

   WT

24 (80.0)

17 (70.8)

 

29 (72.5)

12 (85.7)

 

Total

33 (100)

27 (100)

 

46 (100)

14 (100)

 
  1. a insertions and/or deletions; WBC, white blood cells count; b classification according to EGIL criteria, flow cytometry was not performed in 2 cases with mutations, both were classified as point/missense; c CD10 status was not available in 7 cases, being 5 with point mutations and 2 complex; and 6 classified as missense and 1 as nonsense; d FBXW7 mutational status was not performed in 28 cases out of 138, 22 of 28 were WT, 3 presented point mutations and 3 complex mutations, all 6 mutations were classified as missense