Objective: To investigate the mutation rate and mutation characteristics of FBXW7 and NOTCH1 in adult T-ALL, and to study the effect of these 2 mutations on the clinical features and prognosis of patients with adult T-ALL.
Methods: The mutations of FBXW7 and NOTCH1 in 106 adult T-ALL patients were determined by gene sequencing of FBXW7 and NOTCH1 genes. and the clinical characteristics and prognosis were compared.
Results: Among the 106 cases of adult T-ALL, there were 21 cases (19.8%) of FBXW7 mutation, 66 cases (62.3%) of NOTCH1 mutation and 18 cases (17.0%) of FBXW7 / NOTCH1 double mutations. The 2-year cumulative overall survival rate and event-free survival rate of the patiants in FBXW7 / NOTCH1 double mutant group were lower than those without mutations (27.8% vs 70.3%)（P<0.01) and (16.7% vs 48.6%) ( P<0.01) respectivly, but the FBXW7 or NOTCH1 mutations had a little effect on the prognosis. The recurrence rate at mutant group was higher than that of the non - mutant group (77.8% vs 43.2%) (P<0.05).
Conclusion: FBXW7 or NOTCH1 mutations can not be as the prognostic factors, but the FBXW7 / NOTCH1 double mutations may indicate poor prognosis.