Publication at Second Faculty of Medicine |
2015
Abstract
Acute myeloid leukemia (AML) is a heterogeneous disease characterized by the presence of different collaborating cytogenetic and molecular aberrations that are associated with treatment response. Approximately 20% of pediatric AML patients are classified as cytogenetically normal AML (CN-AML).
In the past decade, new prognostic relevant aberrations have been identified in CN-AML, such as NPM1, WT1, FLT3-ITD and CEBPA double mutations (CEBPAdm), which may improve future risk-group stratification. In addition to these mutations, we recently described recurrent cryptic NUP98/NSD1 and NUP98/KDM5A translocations in pediatric CN-AML.9,10 Still, some CN-AML samples have not been fully characterized.