Prognostic impact of CSF3R mutations in favorable risk childhood acute myeloid leukemia

Truncation mutations in the granulocyte colony-stimulating factor receptor gene (CSF3R) are a rare abnormality in pediatric acute myeloid leukemia, and are usually associated either with mutations in CEBPA or with t(8;21). Through sequencing of over 2000 patients, the authors demonstrated that, although CSF3R mutations with associated t(8;21) still had an excellent response, CSF3R mutation abrogated the favorable risk of CEBPA mutation alone.