title: Detection of PML-RAR alpha fusion transcript in Ph positive leukemia with acute promyelocytic phenotype lacking the t(15;17) cytogenetic abnormality.
abstract: A 39-year-old woman was diagnosed with acute promyelocytic leukemia (APL) with disseminated intravascular coagulation syndrome. The hematologic examination showed a morphologic, cytochemical, and immunophenotypic picture typical of an APL, with a marked leukocytosis and a mixed population of hypergranular and microgranular promyelocytes. The cytogenetic analysis showed a 46,XX,t(9;22) karyotype, without any alterations of chromosomes 15 and 17. The t(15;17) translocation was not evident in FISH experiments, while a molecular analysis revealed the presence of a PML-RAR alpha chimera.
authors.affiliation: Center for Experimental Hematology, University of Modena, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Emilia
authors.forename: R
authors.initials: R
authors.lastname: Marasca
authors.forename: G
authors.initials: G
authors.lastname: Longo
authors.forename: M G
authors.initials: MG
authors.lastname: Ferrari
authors.forename: M
authors.initials: M
authors.lastname: Notohamiprodjo
authors.forename: P
authors.initials: P
authors.lastname: Temperani
authors.forename: S
authors.initials: S
authors.lastname: Sacchi
authors.forename: G
authors.initials: G
authors.lastname: Torelli
mesh_terms: D000328:Adult; D001483:Base Sequence; D002884:Chromosomes, Human, Pair 15; D002886:Chromosomes, Human, Pair 17; D002892:Chromosomes, Human, Pair 22; D002899:Chromosomes, Human, Pair 9; D017931:DNA Primers; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000235:genetics*; D015473:Leukemia, Promyelocytic, Acute / Q000235:genetics*; D008969:Molecular Sequence Data; D010641:Phenotype; D012333:RNA, Messenger / Q000235:genetics; D018168:Receptors, Retinoic Acid / Q000235:genetics*; D011993:Recombinant Fusion Proteins / Q000235:genetics; D014178:Translocation, Genetic
chemical_list: D017931:DNA Primers; D012333:RNA, Messenger; D018168:Receptors, Retinoic Acid; D011993:Recombinant Fusion Proteins