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- Title
Fusion of <i>ZMYND8</i> and <i>RELA</i> Genes in Acute Erythroid Leukemia
- Authors
Panagopoulos, Ioannis; Micci, Francesca; Thorsen, Jim; Haugom, Lisbeth; Buechner, Jochen; Kerndrup, Gitte; Tierens, Anne; Zeller, Bernward; Heim, Sverre
- Abstract
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.
- Subjects
ACUTE erythroid leukemia; LEUKEMIA diagnosis; CYTOGENETICS; BONE marrow cells; CHROMOSOMAL translocation; CHROMOSOMES; NF-kappa B
- Publication
PLoS ONE, 2013, Vol 8, Issue 5, p1
- ISSN
1932-6203
- Publication type
Article
- DOI
10.1371/journal.pone.0063663