Mutagenesis of GATA1 is an initiating event in Down syndrome leukemogenesis

Gina Mundschau, Sandeep Gurbuxani, Alan S. Gamis, Marianne E. Greene, Robert J. Arceci, John D. Crispino

Research output: Contribution to journalArticlepeer-review

180 Scopus citations


As many as 10% of infants with Down syndrome (DS) present with transient myeloproliferative disorder (TMD) at or shortly after birth. TMD is characterized by an abundance of blasts within the peripheral blood and liver, and notably undergoes spontaneous remission in the majority of cases. TMD may be a precursor to acute megakaryoblastic leukemia (AMKL), with an estimated 30% of TMD patients developing AMKL within 3 years. We recently reported that mutations in the transcription factor GATA1 are associated with DS-AMKL. To determine whether the acquisition of GATA1 mutations is a late event restricted to acute leukemia, we analyzed GATA1 in DNA from TMD patients. Here we report that GATA1 is mutated in the TMD blasts from every infant examined. These results demonstrate that GATA1 is likely to playa critical role in the etiology of TMD, and mutagenesis of GATA1 represents a very early event in DS myeloid leukemogenesis.

Original languageEnglish (US)
Pages (from-to)4298-4300
Number of pages3
Issue number11
StatePublished - Jun 1 2003
Externally publishedYes

ASJC Scopus subject areas

  • Biochemistry
  • Immunology
  • Hematology
  • Cell Biology


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