Bi-allelic deletions within 13q14 and transient trisomy 21 with absence of GATA1s in pediatric acute megakaryoblastic leukemia

Pediatr Blood Cancer. 2011 Sep;57(3):516-9. doi: 10.1002/pbc.23156. Epub 2011 Apr 29.


Oligonucleotide array comparative genomic hybridization, karyotype and fluorescence in situ hybridization analyses were employed to delineate the cytogenetic abnormalities in a case of pediatric acute megakaryoblastic leukemia. Here we present a unique genetic profile that includes bi-allelic deletions within 13q14, where the retinoblastoma tumor suppressor gene (RB1) resides, as well as isolated trisomy 21 without a concomitant mutation in the hematopoietic transcription factor GATA1s and translocation (17;22), that does not involve the megakaryoblastic leukemia 1 (MKL1) gene located on chromosome 22. Alteration of the RB1 gene is most likely the critical leukemogenic event in this patient.

Publication types

  • Case Reports

MeSH terms

  • Chromosomes, Human, Pair 13 / genetics*
  • DNA-Binding Proteins / genetics
  • Down Syndrome / genetics*
  • Female
  • GATA1 Transcription Factor / genetics*
  • Humans
  • Infant
  • Leukemia, Megakaryoblastic, Acute / genetics*
  • Oncogene Proteins, Fusion / genetics
  • Retinoblastoma Protein / genetics
  • Sequence Deletion*
  • Trans-Activators
  • Translocation, Genetic


  • DNA-Binding Proteins
  • GATA1 Transcription Factor
  • GATA1 protein, human
  • MRTFA protein, human
  • Oncogene Proteins, Fusion
  • Retinoblastoma Protein
  • Trans-Activators