Acute lymphoblastic leukemia in a patient with Miller-Dieker syndrome

J Pediatr Hematol Oncol. 2008 Nov;30(11):865-8. doi: 10.1097/MPH.0b013e31818a958a.


A 15-month-old girl with Miller-Dieker syndrome, a contiguous gene deletion syndrome involving chromosome 17p13.3 and resulting in lissencephaly, was diagnosed with precursor B-cell acute lymphoblastic leukemia. Cytogenetic analysis identified both the previously detected 17p13.3 deletion and additional complex numerical and structural abnormalities, including loss of chromosome 9, isochromosome 9q and interstitial deletion of 20q. This is, to our knowledge, the first report of acute leukemia in the setting of Miller-Dieker syndrome. Herein we review the literature regarding Miller-Dieker syndrome, with particular attention to the presence of several candidate tumor suppressor genes within the deleted material.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple
  • Chromosome Aberrations
  • Chromosome Deletion
  • Chromosomes, Human, Pair 17 / genetics
  • Chromosomes, Human, Pair 20 / genetics
  • Chromosomes, Human, Pair 9 / genetics
  • Classical Lissencephalies and Subcortical Band Heterotopias / diagnosis*
  • Classical Lissencephalies and Subcortical Band Heterotopias / genetics
  • Classical Lissencephalies and Subcortical Band Heterotopias / therapy
  • Fatal Outcome
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant
  • Isochromosomes
  • Karyotyping
  • Precursor Cell Lymphoblastic Leukemia-Lymphoma / diagnosis*
  • Precursor Cell Lymphoblastic Leukemia-Lymphoma / genetics
  • Precursor Cell Lymphoblastic Leukemia-Lymphoma / therapy
  • Translocation, Genetic