The clinical impact of IKZF1 mutation in acute myeloid leukemia

AbstractGenetic heterogeneity poses a great challenge to the understanding and management of acute myeloid leukemia (AML). Knowledge of theIKZF1 mutation in AML specifically is extremely limited. In a previous work, we described the distribution pattern ofIKZF1 mutation in AML, but its clinical impact has remained undefined due to the limited number of cases. Herein, we attempt to answer this question in one relatively large cohort covering 522 newly diagnosed AML patients. A total of 26IKZF1 mutations were found in 20 AML patients (20/522, 3.83%). This condition has a young median age of onset of morbidity (P  = 0.032). The baseline characteristics ofIKZF1-mutated and wild-type patients were comparable.IKZF1 mutation showed significant co-occurrences withCEBPA (P  <  0.001),SF3B1 (P  <  0.001), andCSF3R (P  = 0.005) mutations, and it was mutually exclusive withNPM1 mutation (P  = 0.033). AlthoughIKZF1-mutated AML was more preferably classified into the intermediate-risk group (P  = 0.004), it showed one inferior complete remission rate (P = 0.032). AML with high burden ofIKZF1 mutation (variant allele frequency  >  0.20) showed relatively short overall survival period (P = 0.012), and it was an independent factor for the increased risk of death (hazard ratio, 6.101; 95% CI 2.278–16.335; P = 0.0003). In subgroup analysis, our results showed thatIKZF1 mutation conferred poor therapeutic response and prognosis forSF3B1-mutated ...
Source: Experimental Hematology and Oncology - Category: Cancer & Oncology Source Type: research