Generation of the NUP98-HOXD13 fusion transcript by a rare translocation, t(2;11)(q31;p15), in a case of infant leukaemia

Br J Haematol. 2000 Jul;110(1):210-3. doi: 10.1046/j.1365-2141.2000.02172.x.


We report a case of de novo acute myelomonocytic leukaemia with the t(2;11)(q31;p15) translocation in a Japanese female infant. The NUP98-HOXD13 fusion transcript generated by the translocation was detected in the patient's bone marrow cells by reverse transcription-polymerase chain reaction (RT-PCR). Additionally, ectopic expression of the normal allele of the HOXD13 gene was observed in this patient, suggesting that it might be associated with leukaemogenic development. This case is the third report of t(2;11) leukaemia with NUP98-HOXD13 and the first report showing that NUP98 rearrangements are associated with infant leukaemia, as well as therapy-related acute myelogenous leukaemia or myelodysplastic syndrome.

Publication types

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

MeSH terms

  • Aged
  • Antigens, CD
  • Antigens, Differentiation, Myelomonocytic
  • Artificial Gene Fusion
  • CD13 Antigens
  • Child
  • Chromosomes, Human, Pair 11*
  • Chromosomes, Human, Pair 2*
  • Female
  • HLA-DR Antigens
  • Homeodomain Proteins / genetics*
  • Humans
  • Immunophenotyping
  • Infant
  • Leukemia, Myelomonocytic, Acute / genetics*
  • Leukemia, Myelomonocytic, Acute / immunology
  • Male
  • Membrane Proteins / genetics*
  • Nuclear Pore Complex Proteins*
  • Nuclear Proteins / genetics*
  • Reverse Transcriptase Polymerase Chain Reaction
  • Sialic Acid Binding Ig-like Lectin 3
  • Transcription Factors*
  • Translocation, Genetic*


  • Antigens, CD
  • Antigens, Differentiation, Myelomonocytic
  • CD33 protein, human
  • HLA-DR Antigens
  • HOXD13 protein, human
  • Homeodomain Proteins
  • Membrane Proteins
  • Nuclear Pore Complex Proteins
  • Nuclear Proteins
  • Sialic Acid Binding Ig-like Lectin 3
  • Transcription Factors
  • nuclear pore complex protein 98
  • CD13 Antigens