Clinical features and long-term outcomes of pediatric patients with de novo acute myeloid leukemia in China with or without specific gene abnormalities: a cohort study of patients treated with BCH-AML 2005

Acute myeloid leukemia (AML), which has distinct genetic abnormalities, has unique clinical and biological features. In this study, the incidence, clinical characteristics, induction treatment response, and outcomes of a large cohort of Chinese AML pediatric patients treated according to the BCH-AML 2005 protocol were analyzed. <i>RUNX1-RUNX1T1</i> was the most common fusion transcript, followed by the <i>CBFβ-MHY11</i> and <i>KMT2A</i> rearrangements. <i>FLT3</i>-ITD and <i>KIT</i> mutations are associated with unfavorable clinical features and induction responses, along with <i>KMT2A</i> rearrangements, <i>DEK-NUP214</i>, and CBF-AML. The 5-year event-free survival (EFS) and overall survival (OS) rates of our cohort were 53.9 ± 3.7% and 58.5 ± 3.6%, with the best survival found among patients with <i>CBFβ-MYH11</i> and the worst survival among those with <i>DEK-NUP214</i>. In addition, we found that patients with <i>FLT3</i>-ITD mutation had adverse outcomes and that <i>KIT</i> mutation had a negative impact on OS in <i>RUNX1-RUNX1T1</i>⁺ patients. Furthermore, the risk classification and response to treatment after each induction block also influenced the prognosis, and HSCT after first remission could improve OS in high-risk patients. Not achieving complete remission after induction 2 was found to be an independent prognostic factor for OS and EFS. These findings indicate that genetic abnormalities could be considered stratification factors, predict patient outcomes, and imply the application of targeted therapy.