Complex translocation (6;21;8), a variant of t(8;21), with trisomy 4 in a patient with acute myelogenous leukemia (M2)

Cancer Genet Cytogenet. 1999 Feb;109(1):72-5. doi: 10.1016/s0165-4608(98)00121-6.

Abstract

The t(8;21)(q22;q22) is the second-most frequently observed nonrandom karyotypic abnormality associated with acute myelogenous leukemia (AML), especially in FAB M2. Trisomy 4 is also a specific chromosomal abnormality for AML FAB M2 or M4. We experienced a 37-year-old woman with a morphologically AML FAB M2 carrying a rare complex translocation (6;21;8)(p21;q22;q22) resulting in AML1 gene rearrangement. A subclone with an additional chromosomal abnormality, trisomy 4, was also revealed. Similarly to the typical t(8;21), a conventional chemotherapy successfully induced into complete remission associated with a recovery of normal karyotype, 46,XX, although AML1/MTG8 (ETO) chimera mRNA was detected by reverse transcriptase polymerase chain reaction.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Chromosome Banding
  • Chromosome Mapping
  • Chromosomes, Human, Pair 21*
  • Chromosomes, Human, Pair 4*
  • Chromosomes, Human, Pair 6*
  • Chromosomes, Human, Pair 8*
  • Core Binding Factor Alpha 2 Subunit
  • DNA-Binding Proteins / genetics
  • Female
  • Genetic Variation
  • Humans
  • Karyotyping
  • Leukemia, Myeloid, Acute / genetics*
  • Leukemia, Myeloid, Acute / pathology
  • Proto-Oncogene Proteins / genetics
  • RNA, Messenger / genetics
  • RUNX1 Translocation Partner 1 Protein
  • Recombinant Fusion Proteins / biosynthesis
  • Reverse Transcriptase Polymerase Chain Reaction
  • Transcription Factors / genetics
  • Translocation, Genetic*
  • Trisomy*

Substances

  • Core Binding Factor Alpha 2 Subunit
  • DNA-Binding Proteins
  • Proto-Oncogene Proteins
  • RNA, Messenger
  • RUNX1 Translocation Partner 1 Protein
  • RUNX1 protein, human
  • RUNX1T1 protein, human
  • Recombinant Fusion Proteins
  • Transcription Factors