Clinical characteristics and prognosis of acute myeloid leukemia patients with Runt‐related transcription factor 1 mutation: A single‐center retrospective analysis

Abstract This study aimed to investigate the clinical characteristics and prognosis of Runt‐related transcription factor 1 (RUNX1) mutant acute myeloid leukemia (AML) patients by comparing the features of AML patients with or without RUNX1 mutation. We retrospectively analyzed 180 AML patients including 36 AML patients with mutant RUNX1(AML‐RUNX1 mut ) and 144 AML patients with wild‐type RUNX1(AML‐RUNX1 wt ) were selected using the case‐pair method(1:4). Compared to AML‐RUNX1 wt , AML‐RUNX1 mut showed higher frequency of ASXL1 ( p < 0.001), SRSF2 ( p < 0.001), BCORL1 ( p < 0.001), RAS ( p = 0.010) mutations, and absent NPM1 mutations ( p = 0.022). The 3‐year overall survival (OS) and disease‐free survival (DFS) of AML‐RUNX1 mut and AML‐RUNX1 wt were 73.1% versus 68.0% ( p = 0.64) and 80.7% versus 71.6% ( p = 0.37), respectively. AML‐RUNX1 mut receiving allogeneic hematopoietic cell transplantation (allo‐HSCT) showed better survival than those who did not receive allo‐HSCT (3‐year OS, 84.3% vs. 52.7%; p = 0.006). Multivariate analysis showed that EZH2 mutation ( p = 0.003), white blood cell (WBC) ≥30 × 10 9 /L ( p = 0.036) and age ≥60 years ( p = 0.038) were significant independent risk factors for inferior OS of AML‐RUNX1 mut ; WBC ≥30 × 10 9 /L ( p = 0.013) and DNMT3A mutation ( p = 0.045) were significant independent risk factors for shorter DFS of AML‐RUNX1 mut . In conclusion, AML‐RUNX1 mut showed unique clinical characteristics, but the survival between AML‐RUNX1 mut and AML‐RUNX1 wt were comparable. EZH2 co‐mutation, DNMT3A co‐mutation, old age and high WBC count were associated with inferior survival of AML‐RUNX1 mut . Allo‐HSCT can significantly improve the prognosis of AML‐RUNX1 mut .