Fusion of ZMYND8 and RELA Genes in Acute Erythroid Leukemia

Ioannis Panagopoulos, Francesca Micci, Jim Thorsen, Lisbeth Haugom, Jochen Buechner, Gitte Kerndrup, Anne Tierens, Bernward Zeller, Sverre Heim

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    28 Scopus citations


    Acute erythroid leukemia was diagnosed in a 4-month-old boy. Cytogenetic analysis of bone marrow (BM) cells showed a t(11;20)(p11;q11) translocation. RNA extracted from the BM was sequenced and analyzed for fusion transcripts using the software FusionMap. A ZMYND8-RELA fusion was ranked first. RT-PCR and direct sequencing verified the presence of an in frame ZMYND8-RELA chimeric transcript. Fluorescence in situ hybridization showed that the ZMYND8-RELA was located on the p12 band of der(11); therefore a cytogenetically invisible pericentric inversion in chromosome 11 must have taken place besides the translocation. The putative ZMYND8-RELA fusion protein contains the Zinc-PHD finger domain, a bromodomain, a PWWP domain, a MYND type of zinc finger of ZMYND8, and the entire RELA protein, indicating that it might act leukemogenically by influencing several cellular processes including the NF-kappa-B pathway.

    Original languageEnglish (US)
    Article numbere63663
    JournalPloS one
    Issue number5
    StatePublished - May 7 2013

    ASJC Scopus subject areas

    • Biochemistry, Genetics and Molecular Biology(all)
    • Agricultural and Biological Sciences(all)
    • General

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    Panagopoulos, I., Micci, F., Thorsen, J., Haugom, L., Buechner, J., Kerndrup, G., Tierens, A., Zeller, B., & Heim, S. (2013). Fusion of ZMYND8 and RELA Genes in Acute Erythroid Leukemia. PloS one, 8(5), [e63663]. https://doi.org/10.1371/journal.pone.0063663