Myeloid leukemia with t(7;21)(p22;q22) and 5q deletion

Panagopoulos,Ioannis; Gorunova,Ludmila; Brandal,Petter; Garnes,Margaret; Tierens,Anne; Heim,Sverre

doi:10.3892/or.2013.2623

October 2013 Volume 30 Issue 4

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October 2013 Volume 30 Issue 4

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Article Open Access

Myeloid leukemia with t(7;21)(p22;q22) and 5q deletion

Authors:
- Ioannis Panagopoulos
- Ludmila Gorunova
- Petter Brandal
- Margaret Garnes
- Anne Tierens
- Sverre Heim
View Affiliations / Copyright

Affiliations: Section for Cancer Cytogenetics, Institute for Medical Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway, Department of Medicine, Ålesund Hospital, Ålesund, Norway, Department of Pathology, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway

Copyright: © Panagopoulos et al. This is an open access article distributed under the terms of Creative Commons Attribution License [CC BY_NC 3.0].
Pages: 1549-1552
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Published online on: July 18, 2013

https://doi.org/10.3892/or.2013.2623
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Abstract

The rare but recurrent RUNX1-USP42 fusion gene is the result of a t(7;21)(p22;q22) chromosomal translocation and has been described in 6 cases of acute myeloid leukemia (AML) and one case of refractory anemia with excess of blast. In the present study, we present the molecular genetic analysis and the clinical features of a t(7;21)(p22;q22)-positive AML case. PCR amplified two RUNX1-USP42 cDNA fragments but no reciprocal USP42-RUNX1 fragment indicating that the RUNX1-USP42 is the leukemogenic fusion gene. Sequencing of the two amplified fragments showed that exon 6 or exon 7 of RUNX1 (accession number NM_001754 version 3) was fused to exon 3 of USP42 (accession number NM_032172 version 2). The predicted RUNX1-USP42 fusion protein would contain the Runt homology domain (RHD), which is responsible for heterodimerization with CBFB and for DNA binding, and the catalytic UCH (ubiquitin carboxyl terminal hydroxylase) domain of the USP42 protein. The bone marrow cells in the present case also had a 5q deletion, and it was revealed that 5 out of the 8 reported cases (including the present case) with t(7;21)(p22;q22)/RUNX1-USP42 also had cytogenetic abnormalities of 5q. The fact that t(7;21) and 5q- occur together much more often than chance would allow seems to be unquestionable, although the pathogenetic connection between the two aberrations remains unknown.

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Journals

International Journal of Molecular Medicine

International Journal of Oncology

Molecular Medicine Reports

Oncology Reports

Experimental and Therapeutic Medicine

Oncology Letters

Biomedical Reports

Molecular and Clinical Oncology

World Academy of Sciences Journal

International Journal of Functional Nutrition

International Journal of Epigenetics

Medicine International

Myeloid leukemia with t(7;21)(p22;q22) and 5q deletion

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