title: Fusion of ZMYND8 and RELA genes in acute erythroid leukemia.
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.
authors.affiliation: Section for Cancer Cytogenetics, Institute for Medical Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway. ioannis.panagopoulos@rr-research.no
authors.forename: Ioannis
authors.initials: I
authors.lastname: Panagopoulos
authors.forename: Francesca
authors.initials: F
authors.lastname: Micci
authors.forename: Jim
authors.initials: J
authors.lastname: Thorsen
authors.forename: Lisbeth
authors.initials: L
authors.lastname: Haugom
authors.forename: Jochen
authors.initials: J
authors.lastname: Buechner
authors.forename: Gitte
authors.initials: G
authors.lastname: Kerndrup
authors.forename: Anne
authors.initials: A
authors.lastname: Tierens
authors.forename: Bernward
authors.initials: B
authors.lastname: Zeller
authors.forename: Sverre
authors.initials: S
authors.lastname: Heim
mesh_terms: D001483:Base Sequence; D022202:Chromosomes, Artificial, Bacterial / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D004915:Leukemia, Erythroblastic, Acute / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009687:Nuclear Proteins / Q000737:chemistry / Q000235:genetics*; D015514:Oncogene Proteins, Fusion / Q000737:chemistry / Q000235:genetics*; D017434:Protein Structure, Tertiary; D020133:Reverse Transcriptase Polymerase Chain Reaction; D051996:Transcription Factor RelA / Q000737:chemistry / Q000235:genetics*
chemical_list: D009687:Nuclear Proteins; D015514:Oncogene Proteins, Fusion; C498143:RELA protein, human; D051996:Transcription Factor RelA; C584810:ZMYND8-RELA fusion protein, human