title: Acute leukemia with t(1;3)(p36;q21), evolution to t(1;3)(p36;q21), t(14;17)(q32;q21), and loss of red cell A and Le(b) antigens.
abstract: At transformation of refractory anemia with ring sideroblasts to acute nonlymphocytic leukemia (ANLL) the bone marrow cells of a 75-year-old woman showed three different karyotypes, i.e., 46,XX,46,XX,t(1;3)(p36;q21) and 46,XX,t(1;3)(p36;q21),t(14;17)(q32;q21). She received no antileukemic therapy, and 1 year later, all her bone marrow cells were t(1;3)(p36;q21),t(14;17)(q32;q21). In association with the onset and first 11 months of ANLL, the platelet count increased 10-fold to a peak of 750 x 10(9)/L, providing further evidence that the t(1;3)(p36;q21) translocation causes stimulation of thrombopoiesis. Six months after transformation, her red cells showed reduced expression of A and Leb antigens. Serum alpha-n-3-acetylgalactosaminyl transferase (blood group A transferase) and red cell adenylate kinase were both reduced. The genes for both these substances are at 9q34, which suggests an abnormality here, although cytogenetically chromosome 9 appeared normal. This is the first case with t(1;3)(p36;q21) to show concurrent loss of red cell antigens and the first report detailing the course of untreated ANLL with t(1;3)(p36;q21).
authors.affiliation: Department of Medicine, University of Tasmania, Hobart, Australia.
authors.forename: K A
authors.initials: KA
authors.lastname: Marsden
authors.forename: A M
authors.initials: AM
authors.lastname: Pearse
authors.forename: G G
authors.initials: GG
authors.lastname: Collins
authors.forename: D S
authors.initials: DS
authors.lastname: Ford
authors.forename: S
authors.initials: S
authors.lastname: Heard
authors.forename: R I
authors.initials: RI
authors.lastname: Kimber
mesh_terms: D000017:ABO Blood-Group System; D000263:Adenylate Kinase / Q000097:blood; D000368:Aged; D000753:Anemia, Refractory / Q000150:complications / Q000235:genetics / Q000276:immunology; D015703:Antigens, CD / Q000032:analysis; D000951:Antigens, Neoplasm / Q000032:analysis; D001788:Blood Grouping and Crossmatching; D002471:Cell Transformation, Neoplastic; D002900:Chromosomes, Human, 1-3; D002883:Chromosomes, Human, Pair 14; D002886:Chromosomes, Human, Pair 17; D005260:Female; D015973:Gene Expression Regulation, Leukemic; D006801:Humans; D016130:Immunophenotyping; D007621:Karyotyping; D015470:Leukemia, Myeloid, Acute / Q000209:etiology / Q000235:genetics* / Q000276:immunology; D007983:Lewis Blood Group Antigens; D014178:Translocation, Genetic
chemical_list: D000017:ABO Blood-Group System; D015703:Antigens, CD; D000951:Antigens, Neoplasm; D007983:Lewis Blood Group Antigens; D000263:Adenylate Kinase