title: Tetraploid acute promyelocytic leukemia with double t(15;17) and PML/RARA rearrangements detected by fluorescence in situ hybridization analysis.
abstract: Acute promyelocytic leukemia (APL) is characterized by a serious hemorrhagic syndrome, unique morphologic findings, and its response to retinoids. Tetraploidy is a very rare chromosomal abnormality in acute myelocytic leukemia. This report presents a unique case of APL with a tetraploid clone characterized by two t(15;17) without other chromosomal changes, as well as PML/RARA rearrangements confirmed fluorescence in situ hybridization. The morphology of the blast cells was that of the classic M3 subtype, but the mean blast size exceeded that of control APL cases with diploidy. A chromosomal study revealed a 92,XXXX,t(15;17)(q22;q21)x2 karyotype in all 20 metaphase spreads. Despite all-trans-retinoic acid (ATRA) treatment and chemotherapy, leukemic cells persisted in the blood, and the patient died of an intracranial hemorrhage on the 16th day after admission.
authors.affiliation: Department of Laboratory Medicine, Pusan National University, Pusan 602-739, Korea.
authors.forename: Seung Hwan
authors.initials: SH
authors.lastname: Oh
authors.forename: Tae Sung
authors.initials: TS
authors.lastname: Park
authors.forename: Hyung Hoi
authors.initials: HH
authors.lastname: Kim
authors.forename: Chulhun L
authors.initials: CL
authors.lastname: Chang
authors.forename: Eun Yup
authors.initials: EY
authors.lastname: Lee
authors.forename: Han Chul
authors.initials: HC
authors.lastname: Son
authors.forename: Joo Seop
authors.initials: JS
authors.lastname: Chung
authors.forename: Goon Jae
authors.initials: GJ
authors.lastname: Cho
mesh_terms: D000782:Aneuploidy; D002884:Chromosomes, Human, Pair 15; D002886:Chromosomes, Human, Pair 17; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D015473:Leukemia, Promyelocytic, Acute / Q000235:genetics*; D008875:Middle Aged; D009363:Neoplasm Proteins / Q000235:genetics*; D009687:Nuclear Proteins; D015514:Oncogene Proteins, Fusion / Q000235:genetics; D000071156:Promyelocytic Leukemia Protein; D018168:Receptors, Retinoic Acid / Q000235:genetics*; D000072482:Retinoic Acid Receptor alpha; D014157:Transcription Factors / Q000235:genetics*; D014178:Translocation, Genetic; D025521:Tumor Suppressor Proteins
chemical_list: D009363:Neoplasm Proteins; D009687:Nuclear Proteins; D015514:Oncogene Proteins, Fusion; D000071156:Promyelocytic Leukemia Protein; C000607071:RARA protein, human; D018168:Receptors, Retinoic Acid; D000072482:Retinoic Acid Receptor alpha; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins; C070576:PML protein, human