Value of NOTCH1 Screening in CLL
Patients with NOTCH1 mutations derive greater benefit from BTK inhibitor treatment than from immunochemotherapy for chronic lymphocytic leukemia (CLL).
Chronic lymphocytic leukemia (CLL) is one of the most common hematologic malignancies, and treatment decisions depend on molecular features.
While TP53 and IGHV mutational status are established predictors guiding therapy, the role of NOTCH1 mutations has been less clearly defined.
- NOTCH1 mutations may serve as an important biomarker for selecting Bruton tyrosine kinase inhibitors (BTKi) therapy.
- NOTCH1 is one of the most frequently mutated genes in CLL, present in approximately 20% of newly diagnosed cases.
NOTCH1 mutations are historically associated with poor outcomes in trials using chemotherapy.
A bicentric retrospective analysis from 2 French tertiary care centers, published in eJHaem, supports the importance of NOTCH1 mutations in CLL treatment.
Author's summary: NOTCH1 screening is valuable in CLL treatment decisions.
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