New molecular abnormalities and clonal architecture in AML: from reciprocal translocations to whole-genome sequencing

Am Soc Clin Oncol Educ Book. 2014:e334-40. doi: 10.14694/EdBook_AM.2014.34.e334.

Abstract

Acute myeloid leukemia (AML) is characterized by recurrent genetic alterations, including amplifications, deletions, rearrangements, and point mutations. Clinically, these lesions can be used to stratify patients into categories of risk, which directs further clinical management and prognostication. Patient risk categories were first described based on recurrent karyotypic abnormalities; most patients with AML, however, fall into intermediate cytogenetic risk, the majority harboring a normal karyotype. Subsequently, identification of recurrently mutated genes, including FLT3, NPM1, and CEBPA, allowed further stratification of patients with a normal karyotype. More extensive genomic and epigenomic analysis of AML samples has expanded the number of known molecular alterations present in this disease. The further understanding of this mutational landscape has shed light into the pathogenesis of AML. AML arises in a founding clone that often gives rise to subclones. Clonal evolution is a feature of the natural history of the disease but may also be influenced by the selective pressure of chemotherapy. The complex network of genetic and epigenetic alterations in this disease has yielded numerous new targets for intervention. In the future, further understanding of this mutational framework, along with the development of novel therapeutic targets, may lead to improved outcomes for patients with AML.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • CCAAT-Enhancer-Binding Proteins / genetics
  • DNA-Binding Proteins / genetics
  • Dioxygenases
  • Enhancer of Zeste Homolog 2 Protein
  • Epigenesis, Genetic
  • Genome, Human
  • Humans
  • Isocitrate Dehydrogenase / genetics
  • Leukemia, Myeloid, Acute / genetics*
  • Leukemia, Myeloid, Acute / therapy
  • Molecular Targeted Therapy
  • Mutation*
  • Nuclear Proteins / genetics
  • Nucleophosmin
  • Polycomb Repressive Complex 2 / genetics
  • Proto-Oncogene Proteins / genetics
  • Translocation, Genetic

Substances

  • CCAAT-Enhancer-Binding Proteins
  • CEBPA protein, human
  • DNA-Binding Proteins
  • NPM1 protein, human
  • Nuclear Proteins
  • Proto-Oncogene Proteins
  • Nucleophosmin
  • Isocitrate Dehydrogenase
  • IDH1 protein, human
  • Dioxygenases
  • TET2 protein, human
  • EZH2 protein, human
  • Enhancer of Zeste Homolog 2 Protein
  • Polycomb Repressive Complex 2