title: A bcr3/short form PML-RARalpha transcript in an acute promyelocytic leukemia resulted from a derivative chromosome 17 due to submicroscopic insertion of the PML gene into the RARalpha locus.
abstract: Acute promyelocytic leukemia (APL) is a subtype of acute myeloid leukemia. Submicroscopic insertion of RARalpha into PML, resulting in PML-RARalpha from derivative chromosome 15, has been rarely reported. Herein, we describe a functional PML-RARalpha transcript from the long arm of derivative chromosome 17 in a patient with microgranular APL. The conventional karyotype showed normal chromosomes 15 and 17. It is interesting that interphase and metaphase fluorescence in situ hybridizations demonstrated a fusion signal on the long arm of one chromosome 17 homolog, with both PML and RARalpha still present on chromosomes 15 and 17, respectively, although the signal on one chromosome 15 was weaker, indicating partial loss of the PML gene. Reverse transcriptase-polymerase chain reaction revealed a transcript corresponding to a break cluster region 3 (bcr3) short form PML-RARalpha. To the best of our knowledge, this is the first report of an APL with a bcr3/short form PML-RARalpha transcript generated from derivative chromosome 17 due to submicroscopic insertion of the PML gene into the RARalpha locus.
authors.affiliation: Department of Pathology, University of Texas Southwestern Medical Center at Dallas, Dallas, TX 75390, USA.
authors.forename: Huan-You
authors.initials: HY
authors.lastname: Wang
authors.forename: Jiantao
authors.initials: J
authors.lastname: Ding
authors.forename: Mohammad A
authors.initials: MA
authors.lastname: Vasef
authors.forename: Kathleen S
authors.initials: KS
authors.lastname: Wilson
mesh_terms: D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D005260:Female; D006801:Humans; D015473:Leukemia, Promyelocytic, Acute / Q000235:genetics*; D008875:Middle Aged; D016254:Mutagenesis, Insertional; D009687:Nuclear Proteins / Q000235:genetics*; D000071156:Promyelocytic Leukemia Protein; D018168:Receptors, Retinoic Acid / Q000235:genetics*; D000072482:Retinoic Acid Receptor alpha; D014157:Transcription Factors / Q000235:genetics*; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: D009687:Nuclear Proteins; 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