Background: Primary refractory acute myeloid leukemia (AML) represents a continuing obstacle in clinical management. The Runt-related transcription factor 1 (RUNX1) gene is a relatively uncommon mutational target in AML cases.
Aim: to investigate the role of RUNX1 mutation in newly diagnosed refractory AML patients receiving first-line induction chemotherapy. Methods: Our research involved 50 newly diagnosed Egyptian AML patients; As a control group, 20 newly diagnosed AML patients who received the conventional first induction chemotherapy with complete remission (CR) and 30 newly diagnosed AML patients who received the same conventional first induction chemotherapy protocols but did not respond to the treatment. Results: 13.3% of the examined cases group had RUNXI mutations found, compared to 5% of the control group, RUNXI mutation was found statistically significant with cases group (P=0.01) and RUNX1 mutation and OS were significantly correlated (P=0.05). Conclusion: RUNX1 mutation have a role in resistance to treatment and prognosis in AML. Therefore, measurement of RUNX1 level provides a new strategy to more aggressive treatments for primary refractory AML cases.