NOTCH1 mutation status as a prognostic biomarker in T-cell acute lymphoblastic leukemia: a systematic review and meta-analysis

The prognostic significance of NOTCH1 mutations in T-cell acute lymphoblastic leukemia (T-ALL) remains uncertain. This study evaluates their impact on key clinical outcomes. A systematic search of the Cochrane Library, PubMed, and CINAHL identified eleven peer-reviewed studies encompassing 2,039 patients. Data were independently extracted by two reviewers and analyzed using RevMan 5.4.1. NOTCH1 mutations were associated with an approximately 22% improvement in event-free survival (EFS) across ten studies (pooled relative risk 0.63, 95% CI: 0.51–0.78), with corresponding EFS rates of 68.8% in NOTCH1-mutated cases versus 53.8% in wild-type cases. Although the improvement in prednisolone response (PR) across three studies was not statistically significant (pooled OR 1.41, 95% CI: 0.44–4.56; p = 0.56), complete remission (CR) rates in three studies were markedly higher in the NOTCH1-mutant group (pooled OR 8.53, 95% CI: 0.86–85.09). Overall survival (OS), evaluated in three studies, tended to be improved in patients with NOTCH1 mutations; however, substantial inter-study heterogeneity precluded definitive conclusions. These findings support incorporating NOTCH1 mutation status into clinical prognostication and treatment planning for T-ALL, potentially facilitating more personalized therapeutic strategies.