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

  • Published online on: July 18, 2013     https://doi.org/10.3892/or.2013.2623
  • Pages: 1549-1552
  • Copyright: © Panagopoulos et al. This is an open access article distributed under the terms of Creative Commons Attribution License [CC BY_NC 3.0].

Metrics: Total Views: 0 (Spandidos Publications: | PMC Statistics: )
Total PDF Downloads: 0 (Spandidos Publications: | PMC Statistics: )


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.
View Figures
View References

Related Articles

Journal Cover

October 2013
Volume 30 Issue 4

Print ISSN: 1021-335X
Online ISSN:1791-2431

Sign up for eToc alerts

Recommend to Library

Copy and paste a formatted citation
x
Spandidos Publications style
Panagopoulos I, Gorunova L, Brandal P, Garnes M, Tierens A and Heim S: Myeloid leukemia with t(7;21)(p22;q22) and 5q deletion. Oncol Rep 30: 1549-1552, 2013.
APA
Panagopoulos, I., Gorunova, L., Brandal, P., Garnes, M., Tierens, A., & Heim, S. (2013). Myeloid leukemia with t(7;21)(p22;q22) and 5q deletion. Oncology Reports, 30, 1549-1552. https://doi.org/10.3892/or.2013.2623
MLA
Panagopoulos, I., Gorunova, L., Brandal, P., Garnes, M., Tierens, A., Heim, S."Myeloid leukemia with t(7;21)(p22;q22) and 5q deletion". Oncology Reports 30.4 (2013): 1549-1552.
Chicago
Panagopoulos, I., Gorunova, L., Brandal, P., Garnes, M., Tierens, A., Heim, S."Myeloid leukemia with t(7;21)(p22;q22) and 5q deletion". Oncology Reports 30, no. 4 (2013): 1549-1552. https://doi.org/10.3892/or.2013.2623