Molecular features, prognosis, and novel treatment options for pediatric acute megakaryoblastic leukemia

Expert Rev Hematol. 2019 May;12(5):285-293. doi: 10.1080/17474086.2019.1609351. Epub 2019 Apr 27.


Acute megakaryoblastic leukemia (AMegL) is a rare hematological neoplasm most often diagnosed in children and is commonly associated with Down's syndrome (DS). Although AMegLs are specifically characterized and typically diagnosed by megakaryoblastic expansion, recent advancements in molecular analysis have highlighted the heterogeneity of this disease, with specific cytogenic and genetic alterations characterizing different disease subtypes. Areas covered: This review will focus on describing recurrent molecular variations in both DS and non-DS pediatric AMegL, their role in promoting leukemogenesis, their association with different clinical aspects and prognosis, and finally, their influence on future treatment strategies with a number of specific drugs beyond conventional chemotherapy already under development. Expert opinion: Deep understanding of the genetic and molecular landscape of AMegL will lead to better and more precise disease classification in terms of diagnosis, prognosis, and possible targeted therapies. Development of new therapeutic approaches based on these molecular characteristics will hopefully improve AMegL patient outcomes.

Keywords: AMegL prognosis; GATA1; Megakaryopoiesis; cytogenetic translocations; down syndrome; novel treatments; pediatric acute megakaryoblastic leukemia.

Publication types

  • Review

MeSH terms

  • Animals
  • Child
  • Disease Management
  • Down Syndrome / complications
  • Down Syndrome / genetics
  • GATA1 Transcription Factor / genetics
  • Humans
  • Leukemia, Megakaryoblastic, Acute / complications
  • Leukemia, Megakaryoblastic, Acute / diagnosis*
  • Leukemia, Megakaryoblastic, Acute / genetics
  • Leukemia, Megakaryoblastic, Acute / therapy*
  • Mutation
  • Prognosis
  • Translocation, Genetic


  • GATA1 Transcription Factor