RUNX1 mutations define a high-risk biological subset of chronic myelomonocytic leukemia and cooperate with ASXL1 mutations to drive leukemic transformation
Retrospective analysis identifies RUNX1 and ASXL1 mutations predict poor outcomes in chronic myelomonocytic leukemia, suggesting treatment adjustments may be needed.
Key Points
To explore the impact of RUNX1 and ASXL1 mutations on clinical outcomes in chronic myelomonocytic leukemia.
Retrospective analysis of 370 newly diagnosed patients with chronic myelomonocytic leukemia.
Bone marrow targeted next generation sequencing performed to identify mutations and variant allelic frequency.
Evaluation of clinical features and treatment responses in relation to RUNX1 and ASXL1 mutation status.
20% of patients had RUNX1 mutations at diagnosis, associated with lower hemoglobin and platelet counts.
Patients with RUNX1 mutations showed significantly shorter leukemia-free survival compared to wild-type patients.
Co-occurrence of RUNX1 and ASXL1 mutations led to worse clinical outcomes, particularly in overall survival.