title: Detection of PML-retinoic acid receptor-alpha fusion transcripts in acute promyelocytic leukemia with trisomy 8 but without t(15;17).
abstract: Chromosome translocation t(15;17), the breakpoints of which are in the PML gene on chromosome 15 and retinoic acid receptor-alpha (RAR alpha) gene on chromosome 17, is specifically found in acute promyelocytic leukemia (APL). Clinically typical APL without t(15;17) and with the PML-RAR alpha fusion transcripts or rearrangements in PML and/or RAR alpha gene has been reported, suggesting submicroscopic changes at the molecular level without apparent t(15;17) or observation of normal metaphases. Trisomy 8 is common in APL as a secondary chromosomal abnormality in addition to t(15;17), as well as in acute myelogenous leukemia in general, but it is rare as a sole chromosomal anomaly in APL. PML-RAR alpha fusion transcript was detected in an APL case with trisomy 8 but without t(15;17), indicating that the leukemic cells lacked t(15;17) and still expressed the PML-RAR alpha fusion transcripts. This indicates that the same submicroscopic molecular changes as in APL with t(15;17) do occur in APL without t(15;17) and supports the use of molecular analysis for PML-RAR alpha fusion in APL.
authors.affiliation: Department of Transfusion Medicine, Kagawa Medical School, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Ikeda
authors.forename: K
authors.initials: K
authors.lastname: Sasaki
authors.forename: T
authors.initials: T
authors.lastname: Tasaka
authors.forename: M
authors.initials: M
authors.lastname: Nagai
authors.forename: K
authors.initials: K
authors.lastname: Kawanishi
authors.forename: J
authors.initials: J
authors.lastname: Takahara
authors.forename: S
authors.initials: S
authors.lastname: Irino
mesh_terms: D000328:Adult; D001483:Base Sequence; D002884:Chromosomes, Human, Pair 15; D002886:Chromosomes, Human, Pair 17; D002898:Chromosomes, Human, Pair 8; D005260:Female; D006801:Humans; D007621:Karyotyping; D015473:Leukemia, Promyelocytic, Acute / Q000235:genetics* / Q000378:metabolism; D008969:Molecular Sequence Data; D009363:Neoplasm Proteins; D009687:Nuclear Proteins; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D016133:Polymerase Chain Reaction; D000071156:Promyelocytic Leukemia Protein; D012333:RNA, Messenger / Q000032:analysis*; D018168:Receptors, Retinoic Acid / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics; D014178:Translocation, Genetic; D014314:Trisomy / Q000235:genetics*; D025521:Tumor Suppressor Proteins
chemical_list: D009363:Neoplasm Proteins; D009687:Nuclear Proteins; D015514:Oncogene Proteins, Fusion; D000071156:Promyelocytic Leukemia Protein; D012333:RNA, Messenger; D018168:Receptors, Retinoic Acid; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins; C070576:PML protein, human