title: Analysis of PIG-A gene in a patient who developed reciprocal translocation of chromosome 12 and paroxysmal nocturnal hemoglobinuria during follow-up of aplastic anemia.
abstract: The relationships between paroxysmal nocturnal hemoglobinuria (PNH), aplastic anemia (AA), and myelodysplastic syndrome (MDS) are not clear. Here we describe a patient, J20, who developed a reciprocal translocation of chromosome 12 and PNH during follow-up of AA. All metaphases in CD59-deficient bone marrow mononuclear cells had the translocation, whereas none of the CD59-deficient cells had it, indicating that the PNH clone coincided with a cell population bearing the chromosomal aberration. We found a somatic single-base deletion mutation in the PIG-A gene of this patient's peripheral blood cells. This is the first patient with PNH with a PNH clone containing a chromosomal translocation.
authors.affiliation: Department of Hematology and Oncology, Osaka University Medical School, Japan.
authors.forename: J I
authors.initials: JI
authors.lastname: Nishimura
authors.forename: N
authors.initials: N
authors.lastname: Inoue
authors.forename: Y
authors.initials: Y
authors.lastname: Azenishi
authors.forename: T
authors.initials: T
authors.lastname: Hirota
authors.forename: T
authors.initials: T
authors.lastname: Akaogi
authors.forename: M
authors.initials: M
authors.lastname: Shibano
authors.forename: K
authors.initials: K
authors.lastname: Kawagoe
authors.forename: E
authors.initials: E
authors.lastname: Ueda
authors.forename: T
authors.initials: T
authors.lastname: Machii
authors.forename: J
authors.initials: J
authors.lastname: Takeda
mesh_terms: D000328:Adult; D000741:Anemia, Aplastic / Q000150:complications / Q000235:genetics*; D001483:Base Sequence; D001853:Bone Marrow / Q000276:immunology / Q000648:ultrastructure; D018957:CD59 Antigens / Q000032:analysis; D002881:Chromosomes, Human, Pair 12; D004912:Erythrocytes / Q000276:immunology / Q000648:ultrastructure; D005260:Female; D017261:Glycosylphosphatidylinositols / Q000235:genetics*; D006098:Granulocytes / Q000276:immunology / Q000648:ultrastructure; D006457:Hemoglobinuria, Paroxysmal / Q000150:complications / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D008969:Molecular Sequence Data; D014178:Translocation, Genetic
chemical_list: D018957:CD59 Antigens; D017261:Glycosylphosphatidylinositols