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GATA2 mutations have recently been reported in acute myeloid leukaemia (AML) patients with CEBPA-double mutations. To explore their impact on this favourable-risk disease, we determined GATA2 status in 153 sporadic AML patients and three members of a germ-line CEBPA-mutant family at AML presentation. Overall, 27% (15/55) CEBPA-double, 16% (7/43) CEBPA-single and 0% (0/55) normal karyotype/CEBPA-wild-type patients were GATA2-mutant. All familial AML patients acquired both a second CEBPA and a GATA2 mutation. CEBPA and GATA2 mutant levels indicated that both mutations were likely to be early events in leukaemogenesis. GATA2 status did not impact on the favourable outcome of CEBPA-double/FLT3-inernal tandem duplication-negative patients.

Original publication




Journal article


Br J Haematol

Publication Date





701 - 705


Adolescent, Adult, Aged, CCAAT-Enhancer-Binding Proteins, Female, GATA2 Transcription Factor, Germ-Line Mutation, Humans, Kaplan-Meier Estimate, Leukemia, Myeloid, Acute, Male, Middle Aged, Mutation, Neoplasm Proteins, Pedigree, Prognosis, Treatment Outcome, Young Adult