title: Translational implications of somatic genomics in acute myeloid leukaemia.
abstract: Acute myeloid leukaemia (AML) is caused by acquired somatic mutations in haemopoietic progenitors. Understanding of the genetic basis of the disease has greatly benefited from the use of DNA sequencing to identify novel disease alleles. Chromosomal aberrations are known to drive AML and are the mainstay of risk classification. Mutations in FLT3, NPM1, and CEBPA provide prognostic information and have been integrated into clinical diagnostics and clinical practice. Comprehensive next-generation sequencing studies have given insight into AML pathogenesis. These insights are leading to refined prognostic stratification and suggest differentially tailored treatment based on integrated genetic profiles. Translation of comprehensive genetic analyses to the clinical setting is the next challenge, to enable genotype-specific therapies for patients with AML and other malignant disorders.
authors: Human Oncology and Pathogenesis Program, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
authors: Sara C
authors: SC
authors: Meyer
authors: Human Oncology and Pathogenesis Program, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA; Leukemia Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA. Electronic address: leviner@mskcc.org.
authors: Ross L
authors: RL
authors: Levine
mesh_terms: D000328:Adult; D000483:Alleles; D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use; D022762:CCAAT-Enhancer-Binding Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D015972:Gene Expression Regulation, Neoplastic / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000453:epidemiology*; D005820:Genetic Testing; D023281:Genomics / Q000379:methods; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000235:genetics* / Q000401:mortality / Q000628:therapy; D008297:Male; D009154:Mutation / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D000090243:Nucleophosmin; D011379:Prognosis; D018570:Risk Assessment; D017422:Sequence Analysis, DNA; D016019:Survival Analysis; D016896:Treatment Outcome; D051941:fms-Like Tyrosine Kinase 3 / Q000235:genetics*
chemical_list: D022762:CCAAT-Enhancer-Binding Proteins; C515848:CEBPA protein, human; C000716967:NPM1 protein, human; D009687:Nuclear Proteins; D000090243:Nucleophosmin; D051941:fms-Like Tyrosine Kinase 3