PHF6 mutations in paediatric acute myeloid leukaemia

Abstract

Paediatric acute myeloid leukaemia (AML) is a heterogeneous disease characterized by the presence of different collaborating cytogenetic aberrations that are associated with outcome (Pui et al, 2011; Creutzig et al, 2012). New prognostically relevant genetic aberrations have recently been identified, such as mutations in NPM1 and FLT3, which further improve risk-group stratification, but the underlying genetic abnormalities are not fully understood in approximately 20% of paediatric AML cases (Pui et al, 2011; Creutzig et al, 2012).

Unravelling the underlying aberrations involved in leukaemogenesis may improve risk-group stratification.

Keywords

• PHF6
• myeloid leukaemia
• mutation analysis
• paediatric oncology
• cytogenetics