title: New variant of acute promyelocytic leukemia with IRF2BP2-RARA fusion.
abstract: We present an acute promyelocytic leukemia (APL) patient with two subtypes of IRF2BP2-RARA, in which the IRF2BP2 gene showed completely new breakpoints. Bone marrow examination revealed morphologic features indicative of APL. However, promyelocytic leukemia-RARA fusion was not detected. A paired-end mRNA sequencing followed by RT-PCR and direct sequencing revealed two types of fusion transcripts between exon 1B of IRF2BP2 and exon 3 of RARA. The patient received all-trans retinoic acid and conventional chemotherapy, but showed resistance. This is the second report of IRF2BP2 involvement in APL, and we describe various breakpoints for the IRF2BP2-RARA fusion gene.
authors.affiliation: Department of Hematology, Kobe City Hospital Organization Kobe City Medical Center General Hospital, Kobe, Japan.
authors.forename: Yoshimitsu
authors.initials: Y
authors.lastname: Shimomura
authors.affiliation: Department of Hematology, Otemae Hospital, Osaka, Japan.
authors.forename: Hideki
authors.initials: H
authors.lastname: Mitsui
authors.affiliation: Department of Hematology, Otemae Hospital, Osaka, Japan.
authors.forename: Yukiko
authors.initials: Y
authors.lastname: Yamashita
authors.affiliation: Department of Hematology, Otemae Hospital, Osaka, Japan.
authors.forename: Tsuyoshi
authors.initials: T
authors.lastname: Kamae
authors.affiliation: Research Institute for Radiation Biology and Medicine, Hiroshima University, Hiroshima, Japan.
authors.forename: Akinori
authors.initials: A
authors.lastname: Kanai
authors.affiliation: Department of General Internal Medicine, Kumamoto University, Kumamoto, Japan.
authors.forename: Hirotaka
authors.initials: H
authors.lastname: Matsui
authors.affiliation: Department of Hematology and Oncology, Osaka University, Suita, Japan.
authors.forename: Tomohiko
authors.initials: T
authors.lastname: Ishibashi
authors.affiliation: Department of Hematology and Oncology, Osaka University, Suita, Japan.
authors.forename: Akira
authors.initials: A
authors.lastname: Tanimura
authors.affiliation: Department of Hematology and Oncology, Osaka University, Suita, Japan.
authors.forename: Hirohiko
authors.initials: H
authors.lastname: Shibayama
authors.affiliation: Department of Hematology and Oncology, Osaka University, Suita, Japan.
authors.forename: Kenji
authors.initials: K
authors.lastname: Oritani
authors.affiliation: Department of Hematology, Otemae Hospital, Osaka, Japan.
authors.forename: Jun
authors.initials: J
authors.lastname: Kuyama
authors.affiliation: Department of Hematology and Oncology, Osaka University, Suita, Japan.
authors.forename: Yuzuru
authors.initials: Y
authors.lastname: Kanakura
mesh_terms: D000368:Aged; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D002352:Carrier Proteins / Q000235:genetics*; D004268:DNA-Binding Proteins; D005091:Exons / Q000235:genetics; D005260:Female; D014644:Genetic Variation / Q000235:genetics*; D006801:Humans; D007564:Japan; D015473:Leukemia, Promyelocytic, Acute / Q000235:genetics* / Q000473:pathology; D050506:Mutant Chimeric Proteins / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D010641:Phenotype; D000072482:Retinoic Acid Receptor alpha / Q000235:genetics*; D014157:Transcription Factors; D014178:Translocation, Genetic / Q000235:genetics*
chemical_list: D002352:Carrier Proteins; D004268:DNA-Binding Proteins; C475082:IRF2BP2 protein, human; D050506:Mutant Chimeric Proteins; D009687:Nuclear Proteins; C000607071:RARA protein, human; D000072482:Retinoic Acid Receptor alpha; D014157:Transcription Factors
keywords: Acute promyelocytic leukemia; all-trans retinoic acid; fluorescence in situ hybridization; gemtuzumab ozogamicin; interferon regulatory protein 2 binding protein 2