Chromosome 7 abnormalities in acute megakaryoblastic leukemia associated with Down syndrome

Cancer Genet Cytogenet. 2005 Apr 15;158(2):184-7. doi: 10.1016/j.cancergencyto.2004.08.036.


A 2-year-old girl with Down syndrome (DS) developed acute megakaryoblastic leukemia (AMKL) following a transient myeloproliferative disorder (TMD). The blast cells showed an altered karyotype of 47,XX,r(7),+21c. Serial cytogenetic studies during the course of the illness showed rapid stepwise clonal chromosome changes, including a ring chromosome 7, associated with treatment refractoriness. We reviewed 10 published cases of Down syndrome-related AMKL (DS-AMKL) showing chromosome 7 abnormalities and found that these changes do not carry the same prognostic weight as for non-DS children. For DS-AMKL, therefore, other prognostic factors besides clonal cytogenetic changes need to be identified for planning optimal therapy.

Publication types

  • Review

MeSH terms

  • Child, Preschool
  • Chromosome Aberrations*
  • Chromosome Disorders*
  • Chromosomes, Human, Pair 7*
  • Disease Progression
  • Down Syndrome / complications
  • Down Syndrome / genetics*
  • Female
  • Humans
  • Leukemia, Megakaryoblastic, Acute / complications
  • Leukemia, Megakaryoblastic, Acute / genetics*
  • Ring Chromosomes
  • Spectral Karyotyping
  • Trisomy