Table 2

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

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)


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

Mansur et al. BMC Cancer 2012 12:9   doi:10.1186/1471-2407-12-9

Open Data