[Effect of FBXW7 and NOTCH1 Mutations on Prognosis of Patients with Adult Acute T Lymphoblastic Leukemia].

Zhongguo Shi Yan Xue Ye Xue Za Zhi

Department of Hematology & Immunology, Affiliated Hospital of Yan'an University, Yan'an 716000, Shaanxi Province, China.E-mail:

Published: October 2018

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.

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http://dx.doi.org/10.7534/j.issn.1009-2137.2018.05.007DOI Listing

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  • A classifier developed through whole-exome sequencing categorized patients into low-risk and high-risk groups based on specific mutations, revealing significant differences in their 5-year cumulative incidence of relapse (CIR).
  • Integrating this genetic stratification with clinical factors like white blood cell counts and minimal residual disease enhances prognosis and identifies potential patients for targeted therapies.
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