title: Novel RUNX1-PRDM16 fusion transcripts in a patient with acute myeloid leukemia showing t(1;21)(p36;q22).
abstract: The t(1;21)(p36;q22) is a recurrent chromosome abnormality associated with therapy-related acute myeloid leukemia (AML). Although involvement of RUNX1 has been detected by fluorescence in situ hybridization analysis, the partner gene has not been reported previously. We identified a novel RUNX1 partner gene, MDS1/EVI1-like-gene 1 (PRDM16), in an AML patient with t(1;21). Alternative splicing of the fusion gene generates five different fusion transcripts. In two of them, the PRDM16 reading frame is maintained in the fusion with RUNX1, suggesting that the RUNX1-PRDM16 gene fusion results in the production of a protein that is highly homologous to the RUNX1-MDS1/EVI1 chimeric protein. It is suggested that PRDM16 and MDS1/EVI1 share a common molecular mechanism for the leukemogenesis of RUNX1-associated leukemia. Characterization of the RUNX1-PRDM16 fusion protein and comparison with the RUNX1-MDS1/EVI1 protein will facilitate the understanding of the mechanisms underlying RUNX1-associated leukemia.
authors: First Department of Internal Medicine, Ehime University School of Medicine, Toon, Ehime 791-0295, Japan. ikusakai@m.ehime-u.ac.jp
authors: Ikuya
authors: I
authors: Sakai
authors: Tatsushiro
authors: T
authors: Tamura
authors: Hirosi
authors: H
authors: Narumi
authors: Naoyuki
authors: N
authors: Uchida
authors: Yoshihiro
authors: Y
authors: Yakushijin
authors: Takaaki
authors: T
authors: Hato
authors: Shigeru
authors: S
authors: Fujita
authors: Masaki
authors: M
authors: Yasukawa
mesh_terms: D000368:Aged; D017398:Alternative Splicing; D001854:Bone Marrow Cells / Q000473:pathology; D002871:Chromosome Banding; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics*; D050676:Core Binding Factor Alpha 2 Subunit / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D006801:Humans; D015479:Leukemia, Myelomonocytic, Acute / Q000235:genetics*; D008297:Male; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D012334:RNA, Neoplasm / Q000235:genetics / Q000378:metabolism; D020133:Reverse Transcriptase Polymerase Chain Reaction; D032681:Spectral Karyotyping; D014157:Transcription Factors / Q000235:genetics*; D014178:Translocation, Genetic
chemical_list: D050676:Core Binding Factor Alpha 2 Subunit; D004268:DNA-Binding Proteins; D015514:Oncogene Proteins, Fusion; C416371:PRDM16 protein, human; D012334:RNA, Neoplasm; C493728:RUNX1 protein, human; D014157:Transcription Factors