Table 2.

Association of NOTCH1 and/or hCDC4 mutation with specific clinical characteristics in T-ALL

NOTCH1/hCDC4 mutationNOTCH1 mutationhCDC4 mutation
Mutant, n (%)Wild-type, n (%)P *Mutant, n (%)Wild-type, n (%)P *Mutant, n (%)Wild-type, n (%)P *
WBC at diagnosis
    <50 × 109/L4 (28.6)1 (8.3)3 (37.5)2 (8.3)2 (25.0)3 (16.7)
    >50 × 109/L10 (71.4)11 (91.7)0.3305 (62.5)16 (91.7)0.2816 (75.0)15 (83.3)0.628
    <200 × 109/L9 (64.3)3 (25.0)7 (87.5)5 (27.8)4 (50.0)8 (44.4)
    >200 × 109/L5 (35.7)9 (75.0)0.0621 (12.5)13 (72.2)0.0094 (50.0)10 (55.6)1.0
Mediastinal mass
    Yes11 (78.6)8 (66.7)7 (87.5)12 (66.7)6 (75.0)13 (72.2)
    No3 (21.4)4 (33.3)0.6651 (12.5)6 (33.3)0.3752 (25.0)5 (27.8)1.0
Lymphomatous features
    Yes13 (92.8)6 (50.0)8 (100.0)11 (61.1)7 (87.5)12 (66.7)
    No1 (7.1)6 (50.0)0.0260 (0.0)7 (38.9)0.0621 (12.5)6 (33.3)0.375
Sex
    Male10 (71.4)9 (0.75)6 (0.75)13 (72.2)5 (62.5)14 (77.8)
    Female4 (28.6)3 (0.25)1.02 (0.25)5 (27.8)1.03 (37.5)4 (22.2)0.635
Age
    <10 y4 (28.6)10 (83.3)1 (12.5)13 (72.2)3 (37.5)11 (61.1)
    ≥10 y10 (71.4)2 (16.7)0.0087 (87.5)5 (27.8)0.0095 (62.5)7 (38.9)0.401
Survival
    Alive13 (92.8)6 (50.0)8 (100.0)11 (61.1)7 (87.5)12 (66.7)
    Dead1 (7.1)6 (50.0)0.0260 (0.0)7 (38.9)0.0621 (12.5)6 (33.3)0.038
CDKN2A status §
    No deletion2 (33.3)2 (25.0)1 (33.3)3 (27.3)2 (40.0)2 (22.2)
    Deletion4 (66.7)6 (75.0)1.02 (66.7)8 (72.3)1.03 (60.0)7 (78.8)0.580
    Not done8 (57.1)4 (33.3)5 (62.5)7 (38.9)3 (37.5)9 (50.0)
  • NOTE: The patients were diagnosed between 1988 and 2006 and living patients have a median follow-up time of 122 mo (range 7.5–210) from diagnosis.

  • * P values from the Fisher exact test. Because multiple comparisons were made, a Bonferroni correction was made for the analysis of presenting clinical features associated with genotype (five analyses). Two other analyses, the association between outcome (survival) and Notch1/hCDC4 genotype and CDKN2A status and Notch1/hCDC4 genotype, were considered as distinct and were thus not corrected for. Statistically significant test results (P ≤ 0.01 for the association with presenting clinical features and P ≤ 0.05 for the other analyses) are given in boldface.

  • Lymphomatous features defined in this population as T-cell disease + one of mediastinal mass, splenomegaly below the navel, and lymphadenopathy with nodes >3 cm in size.

  • Event defined as resistant disease (no remission after induction course, salvage therapy initiated; n = 2, both wild-type for NOTCH1 and hCDC4); induction death (dead during induction; n = 0); relapse (n = 5, one of which was hCDC4 mutant, but NOTCH1 wild-type, the remaining 4 were wild-type for both genes); dead in CR1 (n = 0); or second malignant neoplasm (n = 0).

  • § Patients not analyzed for CDKN2A status excluded from the analysis.