title: Interphase cytogenetic analysis in Argentinean B-cell chronic lymphocytic leukemia patients: association of trisomy 12 and del(13q14).
abstract: We have evaluated genomic aberrations by conventional cytogenetics and fluorescence in situ hybridization (FISH) analysis in a series of 57 Argentinean B-cell chronic lymphocytic leukemia (B-CLL) patients. The studies were performed on stimulated peripheral blood lymphocytes. FISH analysis for trisomy 12, 13q14 deletion, and monosomy of TP53 (also known as p53) was performed according to standard protocols. Our results showed 46.3% of patients with clonal chromosomal alterations by conventional cytogenetics and 80.7% by FISH. Trisomy 12 was found in 21.9% of patients by G-banding analysis and in 35% by FISH studies. Allelic loss of 13q14 was observed in 63.2% patients, most of them showing D13S319 and D13S25 deletion; 11% of patients showed TP53 monosomy. Coexistence of trisomy 12 and 13q14 deletion was found in 17.5% of patients. In this group, deletion 13q14 was the prevalent clone, with percentages 25-35% higher than those observed for trisomy 12, suggesting clonal evolution. The coexistence of trisomy 12 with deletion 13q14 was observed in a higher frequency than reported in the literature. A probable adverse prognosis is suggested for this group of patients, likely related to clonal evolution.
authors.affiliation: Departamento de Genética, Instituto de Investigaciones Hematológicas, Academia Nacional de Medicina, Buenos Aires, Argentina. cpchena@hematologia.anm.edu.ar
authors.forename: Christian
authors.initials: C
authors.lastname: Chena
authors.forename: Guillermo
authors.initials: G
authors.lastname: Arrossagaray
authors.forename: Mariano
authors.initials: M
authors.lastname: Scolnik
authors.forename: María F
authors.initials: MF
authors.lastname: Palacios
authors.forename: Irma
authors.initials: I
authors.lastname: Slavutsky
mesh_terms: D000368:Aged; D001118:Argentina; D002872:Chromosome Deletion; D002881:Chromosomes, Human, Pair 12; D002882:Chromosomes, Human, Pair 13; D020732:Cytogenetic Analysis; D005260:Female; D018628:Gene Dosage; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D015451:Leukemia, Lymphocytic, Chronic, B-Cell / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D014314:Trisomy