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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