title: OBFC2A/RARA: a novel fusion gene in variant acute promyelocytic leukemia.
abstract: Acute promyelocytic leukemia is characterized by the rearrangement of the retinoic acid receptor α (RARA) gene and its fusion with other genes. We report a novel case of variant acute promyelocytic leukemia with the karyotype der (2)t(2;17)(q32;q21). Array comparative genomic hybridization revealed distinct chromosome breakpoints within the RARA and oligonucleotide/oligosaccharide-binding fold containing 2A (OBFC2A) genes. Sequence analysis of the OBFC2A/RARA transcript showed that exon 5 of OBFC2A was fused with exon 3 of RARA through the same breakpoint as in previously described fusions of RARA. The single-stranded DNA binding protein encoded by OBFC2A is critical for genomic stability. Retention of the OB fold domain of OBFC2A in the fusion protein suggests the possibility of homodimerization. The leukemic cells from the patient showed neutrophilic differentiation in the in vitro all-trans retinoic acid assay. Mutation or rearrangement of the OBFC2A gene has not been previously reported in congenital or acquired disorders.
authors.affiliation: Department of Laboratory Medicine, University of Ulsan College of Medicine, Seoul, Korea.
authors.forename: Dahae
authors.initials: D
authors.lastname: Won
authors.forename: So Youn
authors.initials: SY
authors.lastname: Shin
authors.forename: Chan-Jeoung
authors.initials: CJ
authors.lastname: Park
authors.forename: Seongsoo
authors.initials: S
authors.lastname: Jang
authors.forename: Hyun-Sook
authors.initials: HS
authors.lastname: Chi
authors.forename: Kyoo-Hyung
authors.initials: KH
authors.lastname: Lee
authors.forename: Jin-Ok
authors.initials: JO
authors.lastname: Lee
authors.forename: Eul-Ju
authors.initials: EJ
authors.lastname: Seo
mesh_terms: D002886:Chromosomes, Human, Pair 17; D002889:Chromosomes, Human, Pair 2; D055028:Comparative Genomic Hybridization; D053960:DNA Breaks; D004268:DNA-Binding Proteins / Q000235:genetics*; D015321:Gene Rearrangement / Q000235:genetics*; D006801:Humans; D015473:Leukemia, Promyelocytic, Acute / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D018168:Receptors, Retinoic Acid / Q000235:genetics*; D000072482:Retinoic Acid Receptor alpha
chemical_list: D004268:DNA-Binding Proteins; C580593:OBFC2A-RARA fusion protein, human; D015514:Oncogene Proteins, Fusion; C000607071:RARA protein, human; D018168:Receptors, Retinoic Acid; D000072482:Retinoic Acid Receptor alpha