title: t(X;17) as the sole karyotypic anomaly in a case of M(3r) subtype of acute promyelocytic leukemia without RARalpha rearrangement.
abstract: We describe here a unique chromosomal abnormality found in a patient with M(3r) subtype of APL. Neither t(15;17) nor rearrangement of RARalpha was detected by routine R-banded chromosome as well as fluorescence in situ hybridization (FISH) analysis using PML/RARalpha dual-color dual-fusion translocation probe and RARalpha dual-color break apart rearrangement probe. Instead of the typical rearrangement between chromosomes 15 and 17, all cells analyzed had a translocation between X and 17 as the sole karyotypic anomaly. The translocation was conformed by whole chromosome painting (WCP) with painting probes of chromosomes X and 17. To our knowledge, this is the first documented APL with a novel translocation involving chromosomes X and 17 without RARalpha gene rearrangement.
authors.forename: Huan-Ping
authors.initials: HP
authors.lastname: Wang
authors.forename: Huan
authors.initials: H
authors.lastname: Xu
authors.forename: Zhi-Mei
authors.initials: ZM
authors.lastname: Chen
authors.forename: Xiang-Min
authors.initials: XM
authors.lastname: Tong
authors.forename: Wen-Bin
authors.initials: WB
authors.lastname: Qian
authors.forename: Jie
authors.initials: J
authors.lastname: Jin
mesh_terms: D002886:Chromosomes, Human, Pair 17; D041321:Chromosomes, Human, X; D006801:Humans; D007621:Karyotyping; D015473:Leukemia, Promyelocytic, Acute / Q000145:classification / Q000235:genetics*; D018168:Receptors, Retinoic Acid / Q000235:genetics*; D000072482:Retinoic Acid Receptor alpha; D014178:Translocation, Genetic
chemical_list: C000607071:RARA protein, human; D018168:Receptors, Retinoic Acid; D000072482:Retinoic Acid Receptor alpha