title: Y-chromosome loss as the sole karyotypic anomaly with 3'RARalpha submicroscopic deletion in a case of M3r subtype of acute promyelocytic leukemia.
abstract: Acute promyelocytic leukemia (APL) is characterized by the presence of a chromosomal rearrangement involving retinoic acid receptor alpha (RARalpha) gene generating the X-RARalpha fusion. We describe here a unique RARalpha gene rearrangement in a patient with M3r subtype of APL. Conventional cytogenetic analysis revealed Y-chromosome loss as the sole karyotypic anomaly. No X-RARalpha fusion was detected by fluorescence in situ hybridization (FISH) using PML/RARalpha dual-color dual-fusion translocation probe set, or RARalpha dual-color break apart rearrangement probe or reverse-transcription polymerase chain reaction (RT-PCR). However, FISH using RARalpha dual-color break apart rearrangement probe showed a deletion of the entire 3'-end of one allele of RARalpha gene. To our knowledge, this is the first documented APL with 3'RARalpha submicroscopic deletion which is not associated with X-RARalpha fusion. The molecular consequences of this anomaly remain to be elucidated.
authors.affiliation: The First Affiliated Hospital of Soochow University, Jiangsu Institute of Hematology, Key Laboratory of Thrombosis and Hemostasis, 188 Shizi Street, Suzhou, 215006, PR China.
authors.forename: Yongsheng
authors.initials: Y
authors.lastname: Han
authors.forename: Yongquan
authors.initials: Y
authors.lastname: Xue
authors.forename: Jun
authors.initials: J
authors.lastname: Zhang
authors.forename: Jinlan
authors.initials: J
authors.lastname: Pan
authors.forename: Yafang
authors.initials: Y
authors.lastname: Wu
authors.forename: Shuxiao
authors.initials: S
authors.lastname: Bai
mesh_terms: D000328:Adult; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D041322:Chromosomes, Human, Y / Q000235:genetics*; D004211:Disseminated Intravascular Coagulation / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D015470:Leukemia, Myeloid, Acute / Q000235:genetics* / Q000473:pathology; D010314:Partial Thromboplastin Time; D018168:Receptors, Retinoic Acid / Q000235:genetics*; D000072482:Retinoic Acid Receptor alpha; D020133:Reverse Transcriptase Polymerase Chain Reaction; D055815:Young Adult
chemical_list: C000607071:RARA protein, human; D018168:Receptors, Retinoic Acid; D000072482:Retinoic Acid Receptor alpha