GATA1 mutations in down syndrome: Implications for biology and diagnosis of children with transient myeloproliferative disorder and acute megakaryoblastic leukemia

John D. Crispino*

*Corresponding author for this work

Research output: Contribution to journalReview article

62 Scopus citations

Abstract

Although physicians have known for many decades that children with Down syndrome are predisposed to developing transient myeloproliferative disorder (TMD) and acute megakaryoblastic leukemia (AMKL), many questions regarding these disorders remain unresolved. First, what is the relationship between TMD and AMKL? Second, what specific genetic alterations contribute to the leukemic process? Finally, what factors lead to the increased predisposition to these myeloid disorders? In this review I will summarize important new insights into the biology of TMD and AMKL gained from the recent discovery that GATA1, a gene that encodes an essential hematopoietic transcription factor, is mutated in the leukemic blasts from nearly all patients with these malignancies. In addition, I will discuss whether assaying for the presence of a GATA1 mutation can aid in the diagnosis of these and related megakaryoblastic leukemias. Future research aimed at defining the activity of mutant GATA-1 protein and identifying interacting factors encoded by chromosome 21 will likely lead to an even greater understanding of this intriguing leukemia.

Original languageEnglish (US)
Pages (from-to)40-44
Number of pages5
JournalPediatric Blood and Cancer
Volume44
Issue number1
DOIs
StatePublished - Jan 2005

Keywords

  • Acute megakaryoblastic leukemia
  • Down syndrome
  • Transient myeloproliferative disorder

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Hematology
  • Oncology

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