Somatic characterization of pediatric acute myeloid leukemia using next-generation sequencing

Semin Hematol. 2013 Oct;50(4):325-32. doi: 10.1053/j.seminhematol.2013.09.003.


Acute myeloid leukemia (AML) is a complex and heterogeneous disease with distinct age-associated genomic and epigenomic alterations. A large number of somatic karyotypic and molecular alterations have been identified in AML to date; however, very few predict outcome or identify potential therapeutic targets. Here we describe the current state of known molecular and genetic alterations in pediatric AML. Further, as recent advances in sequencing technologies have revolutionized our ability to interrogate cancer genome, transcriptome, and epigenome, we will also review the emerging genomic data identified by next-generation sequencing and discuss their potential impact as tools for therapeutic interventions in the near future. In coming years, a wealth of data from large-scale discovery phase projects such as the Children's Oncology Group/ National Cancer Institute (COG/NCI) TARGET AML initiative will be available to researchers to discover new biomarkers for risk and target identification in pediatric AML.

Publication types

  • Review

MeSH terms

  • Age Factors
  • Child
  • Genomics
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Karyotyping
  • Leukemia, Myeloid, Acute / genetics*
  • Mutation