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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.

Fusion of ZMYND8 and RELA Genes in Acute Erythroid Leukemia