A t(11;20)(p15;q11) may identify a subset of nontherapy-related acute myelocytic leukemia

Cancer Genet Cytogenet. 2004 Mar;149(2):164-8. doi: 10.1016/j.cancergencyto.2003.07.002.


A t(11;20)(p15;q11) is a rare but recurrent chromosomal aberration, reported in one case of polycythemia vera and a few cases of de novo acute myelocytic leukemia (AML) and therapy-related myelodysplastic syndrome (t-MDS). In t-MDS cases, the translocation resulted in the NUP98/TOP1 fusion transcript. The NUP98 gene has been suggested as the target for therapy-related malignancies. The reciprocal TOP1/NUP98 chimera, however, has not yet been encountered. We report a further case of de novo AML, subtype M2 in the French-American-British (FAB) classification, in which the reverse-transcriptase polymerase chain reaction (RT-PCR) revealed the NUP98/TOP1 chimera and also, for the first time, its reciprocal TOP1/NUP98. The literature review disclosed that, among six cases of de novo AML with t(11;20), the NUP98 gene was shown to be involved in one case and the NUP98/TOP1 chimera was detected in another. The translocation seems to be frequently associated with the FAB M2 subtype, younger age, hyperleukocytosis, and poor prognosis; thus, this translocation may identify a subset of not-therapy-related AML patients with shared clinical features.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Amino Acid Sequence
  • Base Sequence
  • Chromosomes, Human, Pair 11*
  • Chromosomes, Human, Pair 20*
  • Cytogenetic Analysis
  • DNA Topoisomerases, Type I / genetics
  • Female
  • Humans
  • Karyotyping
  • Leukemia, Myeloid, Acute / classification
  • Leukemia, Myeloid, Acute / genetics*
  • Molecular Sequence Data
  • Nuclear Pore Complex Proteins / genetics
  • Reverse Transcriptase Polymerase Chain Reaction
  • Sequence Deletion
  • Translocation, Genetic*


  • Nuclear Pore Complex Proteins
  • Nup98 protein, human
  • DNA Topoisomerases, Type I