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

Hiroyuki Shimada, Yasuhito Arai, Shinichiro Sekiguchi, Toru Ishii, Shizue Tanitsu, Michiko Sasaki

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19 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)210-213
Number of pages4
JournalBritish Journal of Haematology
Issue number1
Publication statusPublished - 2000 Aug 29



  • Acute myelomonocytic leukaemia (M4)
  • Infant leukaemia
  • NUP98-HOXD13
  • Translocation (2;11)(p31;p15)

ASJC Scopus subject areas

  • Hematology

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