title: Molecular cytogenetic characterization of deletions on der(9) in chronic myelocytic leukemia.
abstract: The t(9;22)(q34;q11), generating the Philadelphia chromosome, is found in more than 90% of patients with chronic myelocytic leukemia (CML). Deletions adjacent to the translocation breakpoint on the derivative chromosome 9 have been described by several groups. These studies revealed two primary points: (1) genomic microdeletions were concomitant with the t(9;22) rearrangement; and (2) the location of the deleted sequence was centromeric to ABL and telomeric to BCR genes. We report on a detailed molecular cytogenetic characterization of chromosomal rearrangements in two CML patients bearing a complex variant t(9;22) and insertions of chromosome 22 sequences in 9q34. Our study shows that the location of the deleted sequences was downstream of the ABL gene and that genomic microdeletions were concomitant with the ins(9;22)(q34;q11q11) rearrangement.
authors.affiliation: Hematology, University of Foggia, Viale Pinto, 1, 71100, Foggia, Italy.
authors.forename: Antonella
authors.initials: A
authors.lastname: Zagaria
authors.forename: Luisa
authors.initials: L
authors.lastname: Anelli
authors.forename: Francesco
authors.initials: F
authors.lastname: Albano
authors.forename: Laura
authors.initials: L
authors.lastname: Vicari
authors.forename: Ettore Mariano
authors.initials: EM
authors.lastname: Schiavone
authors.forename: Mario
authors.initials: M
authors.lastname: Annunziata
authors.forename: Fabrizio
authors.initials: F
authors.lastname: Pane
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Liso
authors.forename: Mariano
authors.initials: M
authors.lastname: Rocchi
authors.forename: Giorgina
authors.initials: G
authors.lastname: Specchia
mesh_terms: D000328:Adult; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000648:ultrastructure; D002899:Chromosomes, Human, Pair 9 / Q000648:ultrastructure; D005260:Female; D016044:Fusion Proteins, bcr-abl / Q000235:genetics; D016313:Genes, abl; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010677:Philadelphia Chromosome; D051562:Proto-Oncogene Proteins c-bcr / Q000235:genetics
chemical_list: D016044:Fusion Proteins, bcr-abl; D051562:Proto-Oncogene Proteins c-bcr