The genomics of acute myeloid leukemia in children

  • Shannon E. Conneely
  • Rachel E. RauEmail author


Acute myeloid leukemia (AML) is a clinically, morphologically, and genetically heterogeneous disorder. Like many malignancies, the genomic landscape of pediatric AML has been mapped recently through sequencing of large cohorts of patients. Much has been learned about the biology of AML through studies of specific recurrent genetic lesions. Further, genetic lesions have been linked to specific clinical features, response to therapy, and outcome, leading to improvements in risk stratification. Lastly, targeted therapeutic approaches have been developed for the treatment of specific genetic lesions, some of which are already having a positive impact on outcomes. While the advances made based on the discoveries of sequencing studies are significant, much work is left. The biologic, clinical, and prognostic impact of a number of genetic lesions, including several seemingly unique to pediatric patients, remains undefined. While targeted approaches are being explored, for most, the efficacy and tolerability when incorporated into standard therapy is yet to be determined. Furthermore, the challenge of how to study small subpopulations with rare genetic lesions in an already rare disease will have to be considered. In all, while questions and challenges remain, precisely defining the genomic landscape of AML, holds great promise for ultimately leading to improved outcomes for affected patients.


Acute myeloid leukemia Pediatric Genomics Risk stratification Targeted therapies 


Funding information

This work was supported by K08CA201611 from the National Cancer Institute (RR).

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflicts of interest.


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Authors and Affiliations

  1. 1.Division of Pediatric Hematology/OncologyTexas Children’s Cancer Center, Baylor College of MedicineHoustonUSA

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