title: Heterogeneity within AML with CEBPA mutations; only CEBPA double mutations, but not single CEBPA mutations are associated with favourable prognosis.
abstract: CCAAT/enhancer binding protein alpha (CEBPA) mutations in AML are associated with favourable prognosis and are divided into N- and C-terminal mutations. The majority of AML patients have both types of mutations. We assessed the prognostic significance of single (n=7) and double (n=12) CEBPA mutations among 224 AML patients. Double CEBPA mutations conferred a decisively favourable overall (P=0.006) and disease-free survival (P=0.013). However, clinical outcome of patients with single CEBPA mutations was not different from CEBPA wild-type patients. In a multivariable analysis, only double -- but not single -- CEBPA mutations were identified as independent prognostic factors. These findings indicate heterogeneity within AML patients with CEBPA mutations.
authors.affiliation: Department of Medical Oncology and Clinical Research, University Hospital Bern and University Bern, Bern, Switzerland. thomas.pabst@insel.ch
authors.forename: T
authors.initials: T
authors.lastname: Pabst
authors.forename: M
authors.initials: M
authors.lastname: Eyholzer
authors.forename: J
authors.initials: J
authors.lastname: Fos
authors.forename: B U
authors.initials: BU
authors.lastname: Mueller
mesh_terms: D001853:Bone Marrow / Q000473:pathology; D022762:CCAAT-Enhancer-Binding Proteins / Q000097:blood / Q000235:genetics*; D016001:Confidence Intervals; D004252:DNA Mutational Analysis; D018572:Disease-Free Survival; D017930:Genes, Reporter; D006801:Humans; D007621:Karyotyping; D015470:Leukemia, Myeloid, Acute / Q000097:blood / Q000235:genetics* / Q000401:mortality / Q000473:pathology; D007958:Leukocyte Count; D008156:Luciferases / Q000235:genetics; D009154:Mutation; D011379:Prognosis; D016019:Survival Analysis; D017741:Survivors
chemical_list: D022762:CCAAT-Enhancer-Binding Proteins; C515848:CEBPA protein, human; D008156:Luciferases