[HTML][HTML] Fusion of ZMYND8 and RELA Genes in Acute Erythroid Leukemia

I Panagopoulos, F Micci, J Thorsen, L Haugom… - PLoS …, 2013 - journals.plos.org
I Panagopoulos, F Micci, J Thorsen, L Haugom, J Buechner, G Kerndrup, A Tierens, B Zeller…
PLoS One, 2013journals.plos.org
Acute erythroid leukemia was diagnosed in a 4-month-old boy. Cytogenetic analysis of bone
marrow (BM) cells showed at (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); …
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.
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