title: Molecular genetic tests for FLT3, NPM1, and CEBPA in acute myeloid leukemia.
abstract: Patients with acute myeloid leukemia (AML) and a normal karyotype constitute the single largest cytogenetic group of AML. It is important to identify prognostic markers that predict patients' outcome more precisely. The presence of mutations in FLT3 (FMS-like tyrosine kinase 3), NPM1 (Nucleophosmin), and CEBPA (CCAAT/enhancer-binding protein alpha) genes hold prognostic significance in patients with AML and normal cytogenetics. Therefore, mutation identification may help to optimize therapeutic approaches in this group of patients. Polymerase chain reaction (PCR)-based fragment length analysis for mutations in FLT3 and NPM1 has been shown to be a fast and sensitive method, while nucleotide sequencing represents a gold standard for CEBPA heterogeneous mutational screening. We describe both fragment length assay and sequencing methods for mutational analysis of these three genes.
authors.affiliation: Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA.
authors.forename: Qing
authors.initials: Q
authors.lastname: Zhang
authors.forename: Shaochun
authors.initials: S
authors.lastname: Bai
authors.forename: Gail H
authors.initials: GH
authors.lastname: Vance
mesh_terms: D022762:CCAAT-Enhancer-Binding Proteins / Q000235:genetics / Q000302:isolation & purification*; D004252:DNA Mutational Analysis; D005260:Female; D015973:Gene Expression Regulation, Leukemic; D005820:Genetic Testing; D006801:Humans; D059785:Karyotype; D015470:Leukemia, Myeloid, Acute / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics / Q000302:isolation & purification*; D000090243:Nucleophosmin; D011379:Prognosis; D017422:Sequence Analysis, DNA; D051941:fms-Like Tyrosine Kinase 3 / Q000235:genetics / Q000302:isolation & purification*
chemical_list: D022762:CCAAT-Enhancer-Binding Proteins; C515848:CEBPA protein, human; C000716967:NPM1 protein, human; D009687:Nuclear Proteins; D000090243:Nucleophosmin; C497970:FLT3 protein, human; D051941:fms-Like Tyrosine Kinase 3