title: Combined molecular biological and molecular cytogenetic analysis of genomic changes in 146 patients with B-cell chronic lymphocytic leukemia.
abstract: Interphase fluorescence in situ hybridization was used to detect common deletions in B-CLL patients as well as trisomy 12 and aberrations of IgH gene complex at 14q32.33 where we evaluated not only translocation-like signal pattern but also deletions. 120 (82%) patients showed genetic changes - del(13)(q14) 95 (62%), deletion of ATM gene 22 (15%), deletion of p53 gene 25 (17%) and trisomy 12 was proved in 18 (12%) cases. IgH rearrangements were detected in 45 (31%), split of the signals in 11 (8%), deletion of 3' segment flanking IgH gene in 5 (3%) and deletions of variable segment in 29 (20%) patients. Although deletions of 3' segment flanking IgH gene complex are supposed to have an adverse prognostic impact and the genetic background of variable segment deletions is believed to be most probably physiological, we assumed a detailed mapping of the 14q32.33 region will be needed to unravel these mysteries.
authors.affiliation: Center of Oncocytogenetics, Institute of Clinical Biochemistry and Laboratory Diagnostics, Faculty Hospital and First Faculty of Medicine, Charles University in Prague, Praha, Czech Republic. adelaberkova@yahoo.com
authors.forename: A
authors.initials: A
authors.lastname: Berkova
authors.forename: L
authors.initials: L
authors.lastname: Pavlistova
authors.forename: L
authors.initials: L
authors.lastname: Babicka
authors.forename: L
authors.initials: L
authors.lastname: Houskova
authors.forename: J
authors.initials: J
authors.lastname: Tajtlova
authors.forename: P
authors.initials: P
authors.lastname: Balazi
authors.forename: E
authors.initials: E
authors.lastname: Cmunt
authors.forename: J
authors.initials: J
authors.lastname: Schwarz
authors.forename: J
authors.initials: J
authors.lastname: Karban
authors.forename: M
authors.initials: M
authors.lastname: Trneny
authors.forename: J
authors.initials: J
authors.lastname: Brezinova
authors.forename: Z
authors.initials: Z
authors.lastname: Zemanova
authors.forename: K
authors.initials: K
authors.lastname: Michalova
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D002869:Chromosome Aberrations; D002881:Chromosomes, Human, Pair 12; D002882:Chromosomes, Human, Pair 13; D002883:Chromosomes, Human, Pair 14; D020732:Cytogenetic Analysis; D005260:Female; D006801:Humans; D007143:Immunoglobulin Heavy Chains / Q000235:genetics; D017404:In Situ Hybridization, Fluorescence; D015451:Leukemia, Lymphocytic, Chronic, B-Cell / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D025202:Molecular Diagnostic Techniques; D009154:Mutation; D012189:Retrospective Studies; D016019:Survival Analysis; D014314:Trisomy
chemical_list: D007143:Immunoglobulin Heavy Chains