Prognostic and predictive impact of NOTCH1 mutation in chronic lymphocytic leukemia: a systematic review

Mutations in the NOTCH1 oncogene are recurrently linked to chronic lymphocytic leukemia (CLL), found in approximately 10% of CLL cases at diagnosis. Although these mutations are associated with clinical outcomes, their significance in the context of treatment with anti-CD20 monoclonal antibodies, Bruton's tyrosine kinase inhibitors, and BCL2 inhibitors remains controversial. Consequently, testing for NOTCH1 mutations is not recommended outside of a clinical setting. This systematic literature review aims to consolidate the current understanding that NOTCH1 mutations are exploratory and not recommended for routine clinical practice.