title: A case of a novel PML/RARA short fusion transcript with truncated transcription variant 2 of the RARA gene.
abstract: Acute promyelocytic leukemia (APL) with atypical breakpoints in the promyelocytic leukemia (PML) and retinoic acid receptor-alpha (RARA) genes represents a rare leukemic event, which occurs preferentially in patients with variant types of the PML/RARA fusion gene. Here we report on a patient with APL with a unique PML/RARA fusion transcript that harbors a short type of this fusion gene, exhibiting unexpected results of standard PCR diagnostics. The detected transcript originates from fusion of PML exon 4 and a truncated form of transcription variant 2 of the RARA gene, with an additional 9 bp insertion. According to our knowledge, this differs from all previously described fusion transcripts.
authors.affiliation: Center of Molecular Biology and Gene Therapy, Department of Internal Medicine-Hemato-oncology, University Hospital Brno and Masaryk University, Brno, Czech Republic. ivana.jeziskova@fnbrno.cz
authors.forename: Ivana
authors.initials: I
authors.lastname: Jezísková
authors.forename: Filip
authors.initials: F
authors.lastname: Rázga
authors.forename: Jana
authors.initials: J
authors.lastname: Gazdová
authors.forename: Michael
authors.initials: M
authors.lastname: Doubek
authors.forename: Tomás
authors.initials: T
authors.lastname: Jurcek
authors.forename: Zdenek
authors.initials: Z
authors.lastname: Korístek
authors.forename: Jirí
authors.initials: J
authors.lastname: Mayer
authors.forename: Dana
authors.initials: D
authors.lastname: Dvoráková
mesh_terms: D001483:Base Sequence; D004587:Electrophoresis, Agar Gel; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D020033:Protein Isoforms / Q000235:genetics; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D018168:Receptors, Retinoic Acid / Q000235:genetics*; D000072482:Retinoic Acid Receptor alpha; D014158:Transcription, Genetic
chemical_list: D015514:Oncogene Proteins, Fusion; D020033:Protein Isoforms; C000607071:RARA protein, human; D012333:RNA, Messenger; D018168:Receptors, Retinoic Acid; D000072482:Retinoic Acid Receptor alpha; C093476:promyelocytic leukemia-retinoic acid receptor alpha fusion oncoprotein