title: Pathology Consultation on Gene Mutations in Acute Myeloid Leukemia.
abstract: OBJECTIVE
  Acute myeloid leukemia (AML) is a rapidly fatal disease without the use of aggressive chemotherapy regimens. Cytogenetic and molecular studies are commonly used to classify types of AML based on prognosis, as well as to determine therapeutic regimens.
  
  
  METHODS
  Although there are several AML classifications determined by particular translocations, cytogenetically normal AML represents a molecularly, as well as clinically, heterogeneous group of diseases. Laboratory evaluation of AML will become increasingly important as new mutations with both prognostic and therapeutic implications are being recognized. Moreover, because many patients with AML are being treated more effectively, these mutations may become increasingly useful as markers of minimal residual disease, which can be interpreted in an individualized approach.
  
  
  RESULTS
  Current laboratory studies of gene mutations in AML include analysis of NPM1, FLT3, CEBPA, and KIT. In addition to these genes, many other genes are emerging as potentially useful in determining patients' prognosis, therapy, and disease course.
  
  
  CONCLUSIONS
  This article briefly reviews the current most clinically relevant gene mutations and their clinical and immunophenotypic features, prognostic information, and methods used for detection.
authors.affiliation: From Genentech, South San Francisco, CA;
authors.forename: James M
authors.initials: JM
authors.lastname: Ziai
authors.affiliation: Departments of Pathology and Laboratory Medicine, Yale School of Medicine, New Haven, CT; and VA Connecticut Healthcare, West Haven, CT. alexa.siddon@yale.edu.
authors.forename: Alexa J
authors.initials: AJ
authors.lastname: Siddon
mesh_terms: D014408:Biomarkers, Tumor / Q000032:analysis / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods; D020869:Gene Expression Profiling / Q000379:methods; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000175:diagnosis* / Q000235:genetics*; D000090243:Nucleophosmin; D010338:Pathology, Clinical; D012017:Referral and Consultation
chemical_list: D014408:Biomarkers, Tumor; C000716967:NPM1 protein, human; D000090243:Nucleophosmin
keywords: Acute myeloid leukemia; CEBPA; FLT3; KIT; NPM1; Next-generation sequencing; Prognosis; Survival