A rare case of GATA1 negative chemoresistant acute megakaryocytic leukemia in an 8-month-old infant with trisomy 21

Polina Stepensky, Rebecca Brooks, Elisha Waldman, Shoshana Revel-Vilk, Shai Izraeli, Igor Resnick, Michael Weintraub

Research output: Contribution to journalArticlepeer-review

Abstract

Children with Down syndrome (DS) have a unique form of acute megakaryocytic leukemia (AMKL) characterized by the presence of mutations in the GATA1 gene leading to increased chemosensitivity and a favorable outcome. We describe an 8-month-old male with DS who was diagnosed with AMKL without a mutation in the GATA1 gene. The patient was treated according to the DS-AML-regimen but his disease progressed and he succumbed 9 months later. This rare case of DS AMKL without a GATA1 mutation with an unfavorable outcome suggests that GATA1 testing may play a useful role in initial stratification.

Original languageEnglish
Pages (from-to)1048-1049
Number of pages2
JournalPediatric Blood and Cancer
Volume54
Issue number7
DOIs
StatePublished - 1 Jul 2010
Externally publishedYes

Keywords

  • Acute megakaryocytic leukemia
  • Down syndrome
  • GATA1 mutation

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