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Generation of the NUP98–HOXD13 fusion transcript by a rare translocation, t(2;11)(q31;p15), in a case of infant leukaemia
Author(s) -
Shimada Hiroyuki,
Arai Yasuhito,
Sekiguchi Shinichiro,
Ishii Toru,
Tanitsu Shizue,
Sasaki Michiko
Publication year - 2000
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1046/j.1365-2141.2000.02172.x
Subject(s) - chromosomal translocation , fusion transcript , biology , fusion gene , cytogenetics , ectopic expression , karyotype , polymerase chain reaction , gene , cancer research , genetics , chromosome
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.