Prognostic and predictive impact of NOTCH1 mutations in patients with chronic lymphocytic leukemia: a tertiary single-center experience.

ABSTRACT: NOTCH1 mutations (NOTCH1^m) occur in 6%-12% of newly diagnosed chronic lymphocytic leukemia (CLL) patients, increasing to 15%-20% in relapsed cases. Despite their clinical relevance, the independent prognostic impact of NOTCH1^m remains controversial, particularly in the era of targeted therapies, and routine testing has not been universally adopted. A retrospective, real-world study of 271 consecutive CLL patients treated at our institution was conducted between 1999 and 2023. The association of NOTCH1^m with clinical outcomes and response to different treatment modalities, including chemoimmunotherapy (CIT), Bruton's tyrosine kinase inhibitors (BTKi), and venetoclax-based regimens, was evaluated. Primary endpoints included time to first treatment (TTFT), tim

SUBMITTER: D'Antiga M 

PROVIDER: S-EPMC12834786 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature