title: Chronic myeloid leukemia with a rare variant Philadelphia translocation: t(9;22;21)(q34;q11;q22).
abstract: A case of chronic myeloid leukemia displaying an uncommon t(21;22)(q22;q11) is reported. For the first time, this translocation has been characterized by fluorescence in situ hybridization (FISH) and the reverse transcriptase polymerase chain reaction (RT-PCR). FISH, with the use of whole-chromosome painting probes and probes specific for the BCR and ABL genes, showed a three-way variant Philadelphia translocation (9;22;21)(q34;q11;q22) with a BCR/ABL fusion residing on the der(22). In addition, RT-PCR demonstrated a b2a3 BCR/ABL fusion transcript. Underlying mechanisms and prognostic implications are discussed.
authors.affiliation: Centre de Génétique Médicale UCL, Brussels, Belgium.
authors.forename: B
authors.initials: B
authors.lastname: Guillaume
authors.forename: G
authors.initials: G
authors.lastname: Ameye
authors.forename: J M
authors.initials: JM
authors.lastname: Libouton
authors.forename: J
authors.initials: J
authors.lastname: Dierlamm
authors.forename: J L
authors.initials: JL
authors.lastname: Vaerman
authors.forename: N
authors.initials: N
authors.lastname: Straetmans
authors.forename: A
authors.initials: A
authors.lastname: Ferrant
authors.forename: C
authors.initials: C
authors.lastname: Verellen-Dumoulin
authors.forename: L
authors.initials: L
authors.lastname: Michaux
mesh_terms: D002871:Chromosome Banding; D002891:Chromosomes, Human, Pair 21; D005260:Female; D016044:Fusion Proteins, bcr-abl / Q000235:genetics; D006801:Humans; D006918:Hydroxyurea / Q000627:therapeutic use; D017404:In Situ Hybridization, Fluorescence; D016898:Interferon-alpha / Q000627:therapeutic use; D007621:Karyotyping; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000188:drug therapy / Q000235:genetics*; D008875:Middle Aged; D010677:Philadelphia Chromosome; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: D016898:Interferon-alpha; D016044:Fusion Proteins, bcr-abl; D006918:Hydroxyurea