title: GATA2 mutations in sporadic and familial acute myeloid leukaemia patients with CEBPA mutations.
abstract: 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.
authors.affiliation: Department of Haematology, UCL Cancer Institute, London, UK.
authors.forename: Claire L
authors.initials: CL
authors.lastname: Green
authors.affiliation: Centre of Haemato-Oncology, Barts Cancer Institute, Queen Mary University of London, London, UK.
authors.forename: Kiran
authors.initials: K
authors.lastname: Tawana
authors.affiliation: Department of Haematology, Cardiff University School of Medicine, Cardiff, UK.
authors.forename: Robert K
authors.initials: RK
authors.lastname: Hills
authors.affiliation: Centre of Haemato-Oncology, Barts Cancer Institute, Queen Mary University of London, London, UK.
authors.forename: Csaba
authors.initials: C
authors.lastname: Bödör
authors.affiliation: Centre of Haemato-Oncology, Barts Cancer Institute, Queen Mary University of London, London, UK.
authors.forename: Jude
authors.initials: J
authors.lastname: Fitzgibbon
authors.affiliation: Department of Haematology, Great Ormond Street Hospital, London, UK.
authors.forename: Sarah
authors.initials: S
authors.lastname: Inglott
authors.affiliation: Department of Haematology, Great Ormond Street Hospital, London, UK.
authors.forename: Phil
authors.initials: P
authors.lastname: Ancliff
authors.affiliation: Department of Haematology, Cardiff University School of Medicine, Cardiff, UK.
authors.forename: Alan K
authors.initials: AK
authors.lastname: Burnett
authors.affiliation: Department of Haematology, UCL Cancer Institute, London, UK.
authors.forename: David C
authors.initials: DC
authors.lastname: Linch
authors.affiliation: Department of Haematology, UCL Cancer Institute, London, UK.
authors.forename: Rosemary E
authors.initials: RE
authors.lastname: Gale
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D022762:CCAAT-Enhancer-Binding Proteins / Q000235:genetics*; D005260:Female; D050989:GATA2 Transcription Factor / Q000235:genetics*; D018095:Germ-Line Mutation; D006801:Humans; D053208:Kaplan-Meier Estimate; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009363:Neoplasm Proteins / Q000235:genetics; D010375:Pedigree; D011379:Prognosis; D016896:Treatment Outcome; D055815:Young Adult
chemical_list: D022762:CCAAT-Enhancer-Binding Proteins; C515848:CEBPA protein, human; D050989:GATA2 Transcription Factor; C494711:GATA2 protein, human; D009363:Neoplasm Proteins
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