Six cases of rare gene amplifications and multiple copy of fusion gene in childhood acute lymphoblastic leukemia

Pathol Oncol Res. 2013 Jan;19(1):123-8. doi: 10.1007/s12253-012-9533-9. Epub 2012 Apr 24.

Abstract

Cytogenetic aberrations are very important factors in risk assessment of childhood hematological malignancies. We report six childhood acute lymphoid leukemia (ALL) cases with rare cytogenetic aberrations: five with RUNX1, ABL1 or MLL proto-oncogene amplification and one case of multiple copies of ETV6/RUNX1 fusion genes. The simultaneous presence of two adverse genetic aberrations is of special interest: ETV6-RUNX1 fusion gene is associated with good prognosis and intrachromosomal amplification of the homologue RUNX1 gene is associated with poor prognosis. We also report a patient with MLL amplification, a unique finding in childhood T-ALL. Report of these subtle rearrangements contributes to our understanding of diagnostic and prognostic significance of these rare cytogenetic abnormalities.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Child
  • Child, Preschool
  • Core Binding Factor Alpha 2 Subunit / genetics
  • ETS Translocation Variant 6 Protein
  • Female
  • Gene Amplification*
  • Gene Fusion*
  • Histone-Lysine N-Methyltransferase
  • Humans
  • In Situ Hybridization, Fluorescence
  • Male
  • Myeloid-Lymphoid Leukemia Protein / genetics
  • Oncogene Proteins, Fusion / genetics*
  • Precursor Cell Lymphoblastic Leukemia-Lymphoma / genetics*
  • Proto-Oncogene Mas
  • Proto-Oncogene Proteins c-ets / genetics
  • Repressor Proteins / genetics

Substances

  • Core Binding Factor Alpha 2 Subunit
  • KMT2A protein, human
  • MAS1 protein, human
  • Oncogene Proteins, Fusion
  • Proto-Oncogene Mas
  • Proto-Oncogene Proteins c-ets
  • RUNX1 protein, human
  • Repressor Proteins
  • Myeloid-Lymphoid Leukemia Protein
  • Histone-Lysine N-Methyltransferase