A unique AML1 (CBF2A) rearrangement, t(1;21)(p32;q22), observed in a patient with acute myelomonocytic leukemia

Cancer Genet Cytogenet. 2001 Sep;129(2):155-60. doi: 10.1016/s0165-4608(01)00439-3.

Abstract

The AML1 (CBFA2) gene is the most frequent target of chromosomal rearrangements observed in human acute leukemia. These rearrangements include the commonly reported t(8;21)(q22;q22) or AML1/ETO fusion in AML-M2, the t(3;21)(q26;q22) or AML1 fusion with one of three genes, MDS1, EAP or EVI1, in therapy-related AML and MDS, as well as in blast crisis in CML and the t(12;21)(p13;q22) or TEL/AML1 fusion in B-cell ALL. In addition to the t(3;21), other AML1 translocations have also been reported in therapy-related MDS and AML, particularly after treatment with topoisomerase II inhibitors. AML1 gene rearrangements have also been observed less frequently with numerous other chromosomal partners. Here, we describe a patient with AML-M4 and a previously unreported rearrangement involving the AML1 locus and an unknown locus on the short arm of chromosome 1 at 1p32.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Bone Marrow Examination
  • Chromosomes, Human, Pair 1 / genetics*
  • Chromosomes, Human, Pair 21 / genetics*
  • Core Binding Factor Alpha 2 Subunit
  • DNA-Binding Proteins / genetics*
  • Humans
  • Immunophenotyping
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Leukemia, Myelomonocytic, Acute / diagnosis
  • Leukemia, Myelomonocytic, Acute / genetics*
  • Male
  • Proto-Oncogene Proteins*
  • Transcription Factors / genetics*
  • Translocation, Genetic / genetics*

Substances

  • Core Binding Factor Alpha 2 Subunit
  • DNA-Binding Proteins
  • Proto-Oncogene Proteins
  • RUNX1 protein, human
  • Transcription Factors