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Open Access Research article

Fusion of the NUP98 gene with the LEDGF/p52 gene defines a recurrent acute myeloid leukemia translocation

Damian J Hussey12, Sarah Moore3, Mario Nicola3 and Alexander Dobrovic4*

Author Affiliations

1 Department of Haematology-Oncology, The Queen Elizabeth Hospital Woodville, SA 5011, Australia

2 University of Adelaide Department of Medicine, The Queen Elizabeth Hospital Woodville, SA 5011, Australia

3 Department of Haematology, Institute of Medical and Veterinary Science, Adelaide, SA 5006, Australia

4 Molecular Pathology, Department of Pathology, Peter MacCallum Cancer Institute, Locked Bag No 1 A'Beckett Street, Melbourne, Victoria, 8006, Australia

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BMC Genetics 2001, 2:20  doi:10.1186/1471-2156-2-20

Published: 23 November 2001

Abstract

Background

The NUP98 gene is involved in multiple rearrangements in haematological malignancy. The leukemic cells in an acute myeloid leukemia (AML) patient with a t(9;11)(p22;p15) were recently shown to have a fusion between the NUP98 gene and the LEDGF gene but it was not demonstrated that this fusion was recurrent in other leukaemia patients with the same translocation.

Results

We used RT-PCR to analyse the leukemic cells from an AML patient who presented with a cytogenetically identical translocation as the sole chromosomal abnormality. A NUP98-LEDGF fusion transcript was observed and confirmed by sequencing. The reciprocal transcript was also observed. The fusion transcript was not detectable during remission and recurred at relapse. The breakpoints in the NUP98 and LEDGF genes were different to those previously reported. The NUP98 breakpoint occurs in the intron between exons 8 and 9. It is the most 5' breakpoint reported in a translocation involving the NUP98 gene. All of the LEDGF gene is included in the fusion except for exon 1 which codes for the first 24 amino terminal amino acids.

Conclusions

Our results show that fusion of the NUP98 and LEDGF genes is a new recurrent translocation in AML.