Simple variant t(8;21) acute myeloid leukemias harbor insertions of the AML1 or ETO genes

Genes Chromosomes Cancer. 1999 Feb;24(2):165-71. doi: 10.1002/(sici)1098-2264(199902)24:2<165::aid-gcc12>3.0.co;2-1.

Abstract

We report on the molecular characterization of two acute myeloid leukemias (AML), one AML-M1 (patient 1) and one AML-M2 (patient 2) with t(8;21)(p21;q22) and t(8;20)(q22;p13), respectively, at diagnosis. The locations of the breakpoints, 21q22 in patient 1 and 8q22 in patient 2, prompted us to search for a cryptic t(8;21)(q22;q22) and involvement of the AML1 and ETO genes. Dual-color fluorescence in situ hybridization (FISH) using whole chromosome painting probes for chromosomes 8, 20, and 21 confirmed the conventional cytogenetic karyotypes. However, dual-color FISH using appropriate ETO and AML1 probes disclosed an insertion of AML1 into 8q22 on the derivative chromosome 8 in patient 1 and of ETO into 21q22 on one chromosome 21 in patient 2, leading to AML1-ETO fusion signals. Both cases expressed an AML1-ETO transcript, shown by reverse transcriptase polymerase chain reaction and cDNA sequencing. Creation of functional AML1-ETO fusion genes in these two simple variant t(8;21) probably occurred through complex mechanisms, combining translocation and insertion of chromosomal segments.

Publication types

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

MeSH terms

  • Adolescent
  • Adult
  • Chromosomes, Human, Pair 12 / genetics*
  • Chromosomes, Human, Pair 8 / genetics*
  • Core Binding Factor Alpha 2 Subunit
  • Female
  • Humans
  • Leukemia, Myeloid, Acute / genetics*
  • Male
  • Oncogene Proteins, Fusion*
  • RUNX1 Translocation Partner 1 Protein
  • Recombinant Fusion Proteins / genetics
  • Transcription Factors / genetics*
  • Translocation, Genetic / genetics*

Substances

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