Identification of ins(8;21) with AML1/ETO fusion in acute myelogenous leukemia M2 by molecular cytogenetics

Cancer Genet Cytogenet. 2002 Feb;133(1):83-6. doi: 10.1016/s0165-4608(01)00555-6.

Abstract

A high percentage of cases of acute myelogenous leukemia (AML) of the M2 subtype show a rearrangement between the AML1 and ETO genes. The detection of the AML1/ETO fusion has clinical relevance because patients with this subtype have a good prognosis. We present the results of conventional and molecular cytogenetic studies in a patient with acute myelogenous leukemia French-American-British M2 classification, who had a complex karyotype involving chromosomes 8 and 21. Dual-color fluorescence in situ hybridization (FISH) using the AML1/ETO probe demonstrated a recombination of both genes on an add(8) chromosome. The use of other FISH probes (CEP8, c-myc and TEL21) and spectral karyotyping indicated that AML1/ETO fusion occurred as a consequence of a previously undescribed ins(8;21)(q22;q22.1q22.3).

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child
  • Chromosomes, Human, Pair 21*
  • Chromosomes, Human, Pair 8*
  • Core Binding Factor Alpha 2 Subunit
  • Cytogenetic Analysis
  • Female
  • Humans
  • Karyotyping
  • Leukemia, Myeloid, Acute / genetics*
  • Leukemia, Myeloid, Acute / physiopathology
  • Oncogene Proteins, Fusion / analysis
  • Oncogene Proteins, Fusion / genetics*
  • Prognosis
  • RUNX1 Translocation Partner 1 Protein
  • Transcription Factors / analysis
  • Transcription Factors / genetics*

Substances

  • AML1-ETO fusion protein, human
  • Core Binding Factor Alpha 2 Subunit
  • Oncogene Proteins, Fusion
  • RUNX1 Translocation Partner 1 Protein
  • Transcription Factors