摘要 : Hereditary GATA2 mutations show predisposition to acute myeloid leukaemia (AML) and myelodysplastic syndrome (MDS) (Hahn et al, 2011). These mutations have also been reported in chronic myeloid leukaemia (Zhang et al, 2008) and mo... 展开 Hereditary GATA2 mutations show predisposition to acute myeloid leukaemia (AML) and myelodysplastic syndrome (MDS) (Hahn et al, 2011). These mutations have also been reported in chronic myeloid leukaemia (Zhang et al, 2008) and monocytopenia and mycobacterial infection (MonoMAC) syndrome (Hsu et al, 2011). More recently, GATA2 mutations have been identified in de novo AML, especially in adult patients with biallelic CEBPA mutations (Greif et al, 2012; Green et al, 2013). GATA2 and CEBPA are transcription factors that are crucial for haematopoietic development. These findings prompted us to identify possible GATA2 and CEBPA mutations in patients with various paediatric leukaemias. 收起