title: Acute Myeloid Leukemia With Recurrent Genetic Abnormalities Other Than Translocations.
abstract: OBJECTIVE
  Session 2 of the workshop focused on cases of acute myeloid leukemia (AML) with gene mutations in the setting of a normal karyotype.
  
  
  METHODS
  Among 22 AML cases submitted, 14 had the NPM1 mutation, most also accompanied by mutations of other genes such as FLT3-ITD, DNMT3A, or, rarely, TP53; three cases had the heterozygous CEBPA mutation; and two cases had MYC amplification.
  
  
  RESULTS
  We explored prognostic implications of gene mutations such as DNMT3A, issues related to the classification of AML cases with the NPM1 mutation, and myelodysplasia-related changes arising from chronic myelomonocytic leukemia after a short latency interval. Disparate patterns of treatment response to targeted therapy using an FLT3 inhibitor, designated as cytotoxic or differentiation, and their genetic underpinnings were described. Finally, a minimal screening panel for gene mutations and the optimal approach for monitoring minimal residual disease were discussed.
  
  
  CONCLUSIONS
  In aggregate, this session highlighted the need for a refined molecular classification of AML as well as improved risk stratification based on systematic assessment for genetic alterations and their evolution over time.
authors.affiliation: From the Department of Hematopathology, The University of Texas-MD Anderson Cancer Center, Houston; and.
authors.forename: Pei
authors.initials: P
authors.lastname: Lin
authors.affiliation: The Department of Hematology, Institute Hematology at University of Perugia, Perugia, Italy.
authors.forename: Brunangelo
authors.initials: B
authors.lastname: Falini
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D005784:Gene Amplification; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000145:classification* / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009154:Mutation; D000090243:Nucleophosmin; D014178:Translocation, Genetic
keywords: Flow cytometry; Hematopathology; Immunopathology