Open Access Short communication

POU1F1 is a novel fusion partner of NUP98 in acute myeloid leukemia with t(3;11)(p11;p15)

Susana Lisboa1, Nuno Cerveira1, Susana Bizarro1, Cecília Correia1, Joana Vieira1, Lurdes Torres1, José M Mariz2 and Manuel R Teixeira13*

Author Affiliations

1 Department of Genetics, Portuguese Oncology Institute, Rua Dr. António Bernardino de Almeida, 4200-072, Porto, Portugal

2 Department of Onco-Hematology, Portuguese Oncology Institute, Porto, Portugal

3 Institute of Biomedical Sciences (ICBAS), University of Porto, Porto, Portugal

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Molecular Cancer 2013, 12:5  doi:10.1186/1476-4598-12-5

Published: 18 January 2013

Abstract

Background

NUP98 gene rearrangements have been reported in acute myeloid leukemia, giving rise to fusion proteins that seem to function as aberrant transcription factors, and are thought to be associated with poor prognosis.

Findings

A patient with treatment-related acute myeloid leukemia presented a t(3;11)(p11;p15) as the only cytogenetic abnormality. FISH and molecular genetic analyses identified a class 1 homeobox gene, POU1F1, located on chromosome 3p11, as the fusion partner of NUP98. In addition, we have found that the patient harbored an FLT3-ITD mutation, which most likely collaborated with the NUP98-POU1F1 fusion gene in malignant transformation.

Conclusions

We have identified POU1F1 as the NUP98 fusion partner in therapy-related AML with a t(3;11)(p11;p15). This is the first POU family member identified as a fusion partner in human cancer.

Keywords:
NUP98 gene; NP98-POU1F1; Gene fusion; Acute leukemia